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dbVar

Database of genomic structural variation

nsv3873640

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:627,343

Description:GRCh37/hg19 1p13.2-13.1(chr1:116065879-116693221)x3 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: 1614 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):115,523,258-116,150,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3873640	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	115,523,258	116,150,600
nsv3873640	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	116,065,879	116,693,221

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15150647	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000511605.2, VCV000441881.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15150647	Remapped	Perfect	NC_000001.11:g.(?_ 115523258)_(116150 600_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	115,523,258	116,150,600
nssv15150647	Submitted genomic		NC_000001.10:g.(?_ 116065879)_(116693 221_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	116,065,879	116,693,221

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
nssv15150647	GRCh37: NC_000001.10:g.(?_116065879)_(116693221_?)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000511605.2, VCV000441881.2	3

No genotype data were submitted for this variant

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