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dbVar

Database of genomic structural variation

nsv4388434

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:79,320

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: 584 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):194,043,837-194,123,156

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4388434	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	194,043,837	194,123,156
nsv4388434	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	194,908,561	194,987,880

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15623406	copy number loss	1-0236-002	SNP array	Genotyping	23
nssv15659487	copy number loss	3-0736-000	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15623406	Remapped	Perfect	NC_000002.12:g.(?_ 194043837)_(194123 156_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	194,043,837	194,123,156
nssv15659487	Remapped	Perfect	NC_000002.12:g.(?_ 194043837)_(194123 156_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	194,043,837	194,123,156
nssv15623406	Submitted genomic		NC_000002.11:g.(?_ 194908561)_(194987 880_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	194,908,561	194,987,880
nssv15659487	Submitted genomic		NC_000002.11:g.(?_ 194908561)_(194987 880_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	194,908,561	194,987,880

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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