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dbVar

Database of genomic structural variation

nsv3884005

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:659,748

Description:GRCh37/hg19 2q12.1(chr2:105239993-105899739)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: 1382 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):104,623,535-105,283,282

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3884005	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	104,623,535	105,283,282
nsv3884005	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	105,239,993	105,899,739

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142549	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000511153.2, VCV000443263.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142549	Remapped	Perfect	NC_000002.12:g.(?_ 104623535)_(105283 282_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	104,623,535	105,283,282
nssv15142549	Submitted genomic		NC_000002.11:g.(?_ 105239993)_(105899 739_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	105,239,993	105,899,739

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
nssv15142549	GRCh37: NC_000002.11:g.(?_105239993)_(105899739_?)dup	copy number gain	paternal	See cases	Likely benign	ClinVar	RCV000511153.2, VCV000443263.2	3

No genotype data were submitted for this variant

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