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dbVar

Database of genomic structural variation

nsv6625675

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:48,407

Publication(s):Zarrei et al. 2023

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: 1128 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):16,885,121-16,933,527

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6625675	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	16,885,121	16,933,527
nsv6625675	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	17,211,616	17,260,022

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18305432	deletion	OSC6390	SNP array	Probe signal intensity	11
nssv18310461	duplication	OSC7273	SNP array	Probe signal intensity	9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18305432	Remapped	Perfect	NC_000001.11:g.(?_ 16885121)_(1693352 7_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,885,121	16,933,527
nssv18310461	Remapped	Perfect	NC_000001.11:g.(?_ 16885121)_(1693352 7_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,885,121	16,933,527
nssv18305432	Submitted genomic		NC_000001.10:g.(?_ 17211616)_(1726002 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,211,616	17,260,022
nssv18310461	Submitted genomic		NC_000001.10:g.(?_ 17211616)_(1726002 2_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,211,616	17,260,022

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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