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dbVar

Database of genomic structural variation

nsv4380903

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:22,921

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: 363 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):177,800,537-177,823,457

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4380903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	177,800,537	177,823,457
nsv4380903	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	177,227,538	177,250,458

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15644474	copy number gain	16-1018-003	SNP array	Genotyping	19
nssv15644831	copy number gain	16-1010-001	SNP array	Genotyping	24
nssv15659249	copy number gain	4-0074-002	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15644474	Remapped	Perfect	NC_000005.10:g.(?_ 177800537)_(177823 457_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,537	177,823,457
nssv15644831	Remapped	Perfect	NC_000005.10:g.(?_ 177800537)_(177823 457_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,537	177,823,457
nssv15659249	Remapped	Perfect	NC_000005.10:g.(?_ 177800537)_(177823 457_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,537	177,823,457
nssv15644474	Submitted genomic		NC_000005.9:g.(?_1 77227538)_(1772504 58_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,538	177,250,458
nssv15644831	Submitted genomic		NC_000005.9:g.(?_1 77227538)_(1772504 58_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,538	177,250,458
nssv15659249	Submitted genomic		NC_000005.9:g.(?_1 77227538)_(1772504 58_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,538	177,250,458

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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