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dbVar

Database of genomic structural variation

nsv3902356

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,102,543

Description:GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 AND See cases

Links to Other Resources

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: 4039 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):35,656,209-36,758,751

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3902356	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	35,656,209	36,758,751
nsv3902356	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	36,147,111	37,249,653

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15143160	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000511504.2, VCV000442794.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15143160	Remapped	Perfect	NC_000019.10:g.(?_ 35656209)_(3675875 1_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	35,656,209	36,758,751
nssv15143160	Submitted genomic		NC_000019.9:g.(?_3 6147111)_(37249653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	36,147,111	37,249,653

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15143160	GRCh37: NC_000019.9:g.(?_36147111)_(37249653_?)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000511504.2, VCV000442794.2	1

No genotype data were submitted for this variant

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