nsv3318370

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:5,852

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: 563 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):65,533,248-65,539,099

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318370	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nsv3318370	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	63,200,484	63,206,335

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467644	copy number gain	M1206	SNP array	SNP genotyping analysis	63
nssv14468509	copy number gain	M2160	SNP array	SNP genotyping analysis	22
nssv14468579	copy number gain	M2166	SNP array	SNP genotyping analysis	16
nssv14469597	copy number gain	M2251	SNP array	SNP genotyping analysis	12
nssv14469978	copy number gain	M2292	SNP array	SNP genotyping analysis	17
nssv14470469	copy number gain	M2342	SNP array	SNP genotyping analysis	13
nssv14470596	copy number gain	M2361	SNP array	SNP genotyping analysis	25
nssv14470736	copy number gain	M2372	SNP array	SNP genotyping analysis	17
nssv14470783	copy number gain	M2377	SNP array	SNP genotyping analysis	14
nssv14470920	copy number gain	M2393	SNP array	SNP genotyping analysis	18
nssv14471092	copy number gain	M2406	SNP array	SNP genotyping analysis	18
nssv14471134	copy number gain	M2411	SNP array	SNP genotyping analysis	14
nssv14471528	copy number gain	M2462	SNP array	SNP genotyping analysis	56
nssv14471879	copy number gain	M2501	SNP array	SNP genotyping analysis	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467644	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14468509	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14468579	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14469597	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14469978	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14470469	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14470596	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14470736	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14470783	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14470920	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14471092	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14471134	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14471528	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14471879	Remapped	Perfect	NC_000018.10:g.(?_ 65533248)_(6553909 9_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	65,533,248	65,539,099
nssv14467644	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14468509	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14468579	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14469597	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14469978	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14470469	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14470596	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14470736	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14470783	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14470920	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14471092	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14471134	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14471528	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335
nssv14471879	Submitted genomic		NC_000018.9:g.(?_6 3200484)_(63206335 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	63,200,484	63,206,335

dbVar

Database of genomic structural variation

nsv3318370

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