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dbVar

Database of genomic structural variation

nsv4449737

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:23,035

Description:GRCh37/hg19 2q36.3(chr2:230769636-230792670)x1 AND not provided

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: 213 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):229,904,920-229,927,954

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4449737	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	229,904,920	229,927,954
nsv4449737	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	230,769,636	230,792,670

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776397	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000849232.2, VCV000688541.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15776397	Remapped	Perfect	NC_000002.12:g.(?_ 229904920)_(229927 954_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	229,904,920	229,927,954
nssv15776397	Submitted genomic		NC_000002.11:g.(?_ 230769636)_(230792 670_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	230,769,636	230,792,670

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
nssv15776397	GRCh37: NC_000002.11:g.(?_230769636)_(230792670_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000849232.2, VCV000688541.2	1

No genotype data were submitted for this variant

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