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dbVar

Database of genomic structural variation

nsv4384968

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:117,479

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: 589 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):27,438,241-27,555,719

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384968	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	27,438,241	27,555,719
nsv4384968	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	27,907,447	28,024,925

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15618682	copy number loss	1-0873-003	SNP array	Genotyping	23
nssv15688643	copy number loss	OCD36-S_0625-0144-2	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15618682	Remapped	Perfect	NC_000014.9:g.(?_2 7438241)_(27555719 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	27,438,241	27,555,719
nssv15688643	Remapped	Perfect	NC_000014.9:g.(?_2 7438241)_(27555719 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	27,438,241	27,555,719
nssv15618682	Submitted genomic		NC_000014.8:g.(?_2 7907447)_(28024925 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	27,907,447	28,024,925
nssv15688643	Submitted genomic		NC_000014.8:g.(?_2 7907447)_(28024925 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	27,907,447	28,024,925

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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