nsv3318092

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:14
Validation:Not tested
Clinical Assertions: No
Region Size:14,092

Publication(s):Frenkel et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 280 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):227,379,391-227,393,482

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318092	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nsv3318092	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	228,244,107	228,258,198

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467664	copy number gain	M1206	SNP array	SNP genotyping analysis	63
nssv14467748	copy number gain	M2102	SNP array	SNP genotyping analysis	11
nssv14468139	copy number gain	M2130	SNP array	SNP genotyping analysis	26
nssv14468431	copy number gain	M2152	SNP array	SNP genotyping analysis	13
nssv14468875	copy number gain	M2187	SNP array	SNP genotyping analysis	20
nssv14468894	copy number gain	M2188	SNP array	SNP genotyping analysis	27
nssv14469416	copy number gain	M2234	SNP array	SNP genotyping analysis	10
nssv14469468	copy number gain	M2239	SNP array	SNP genotyping analysis	23
nssv14469627	copy number gain	M2255	SNP array	SNP genotyping analysis	20
nssv14470114	copy number gain	M2309	SNP array	SNP genotyping analysis	18
nssv14470483	copy number gain	M2350	SNP array	SNP genotyping analysis	18
nssv14470701	copy number gain	M2370	SNP array	SNP genotyping analysis	18
nssv14470815	copy number gain	M2383	SNP array	SNP genotyping analysis	23
nssv14471290	copy number gain	M2430	SNP array	SNP genotyping analysis	16

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467664	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14467748	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14468139	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14468431	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14468875	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14468894	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14469416	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14469468	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14469627	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14470114	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14470483	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14470701	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14470815	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14471290	Remapped	Perfect	NC_000002.12:g.(?_ 227379391)_(227393 482_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,379,391	227,393,482
nssv14467664	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14467748	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14468139	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14468431	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14468875	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14468894	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14469416	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14469468	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14469627	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14470114	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14470483	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14470701	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14470815	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198
nssv14471290	Submitted genomic		NC_000002.11:g.(?_ 228244107)_(228258 198_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	228,244,107	228,258,198

dbVar

Database of genomic structural variation

nsv3318092

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant