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dbVar

Database of genomic structural variation

nsv4381917

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:61,675

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: 512 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):194,006,520-194,068,194

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4381917	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	194,006,520	194,068,194
nsv4381917	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	194,871,244	194,932,918

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15618466	copy number loss	1-0171-004	SNP array	Genotyping	30
nssv15618691	copy number loss	1-0171-002	SNP array	Genotyping	19
nssv15618963	copy number loss	1-0171-005	SNP array	Genotyping	28

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15618466	Remapped	Perfect	NC_000002.12:g.(?_ 194006520)_(194068 194_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	194,006,520	194,068,194
nssv15618691	Remapped	Perfect	NC_000002.12:g.(?_ 194006520)_(194068 194_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	194,006,520	194,068,194
nssv15618963	Remapped	Perfect	NC_000002.12:g.(?_ 194006520)_(194068 194_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	194,006,520	194,068,194
nssv15618466	Submitted genomic		NC_000002.11:g.(?_ 194871244)_(194932 918_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	194,871,244	194,932,918
nssv15618691	Submitted genomic		NC_000002.11:g.(?_ 194871244)_(194932 918_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	194,871,244	194,932,918
nssv15618963	Submitted genomic		NC_000002.11:g.(?_ 194871244)_(194932 918_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	194,871,244	194,932,918

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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