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dbVar

Database of genomic structural variation

nsv4382894

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:58,531

Publication(s):Zarrei 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: 2239 SVs from 102 studies. See in: genome view

Remapped(Score: Perfect):55,609,173-55,667,703

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4382894	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nsv4382894	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	55,376,649	55,435,179

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15620300	copy number gain	1-0961-003	SNP array	Genotyping	24
nssv15624074	copy number gain	1-0291-001	SNP array	Genotyping	12
nssv15624944	copy number gain	1-0298-003	SNP array	Genotyping	28
nssv15630289	copy number gain	1-0600-003	SNP array	Genotyping	25
nssv15646899	copy number gain	2-1094-003	SNP array	Genotyping	25
nssv15660772	copy number gain	5-0065-002	SNP array	Genotyping	20
nssv15683930	copy number gain	OCD137-0625-2972-2	SNP array	Genotyping	28
nssv15684090	copy number gain	OCD148-KJ-1488	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15620300	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15624074	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15624944	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15630289	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15646899	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15660772	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15683930	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15684090	Remapped	Perfect	NC_000011.10:g.(?_ 55609173)_(5566770 3_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,609,173	55,667,703
nssv15620300	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179
nssv15624074	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179
nssv15624944	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179
nssv15630289	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179
nssv15646899	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179
nssv15660772	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179
nssv15683930	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179
nssv15684090	Submitted genomic		NC_000011.9:g.(?_5 5376649)_(55435179 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	55,376,649	55,435,179

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

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