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dbVar

Database of genomic structural variation

nsv3885080

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:1,777,901

Description:GRCh37/hg19 1p34.2(chr1:41343608-43121507)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: 4009 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):40,877,936-42,655,836

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3885080	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	40,877,936	42,655,836
nsv3885080	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	41,343,608	43,121,507

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15123785	copy number loss	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000234876.1, VCV000242842.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15123785	Remapped	Perfect	NC_000001.11:g.(?_ 40877936)_(4265583 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	40,877,936	42,655,836
nssv15123785	Submitted genomic		NC_000001.10:g.(?_ 41343608)_(4312150 7_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	41,343,608	43,121,507

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
nssv15123785	GRCh37: NC_000001.10:g.(?_41343608)_(43121507_?)del	copy number loss	unknown	See cases	Likely pathogenic	ClinVar	RCV000234876.1, VCV000242842.1	1

No genotype data were submitted for this variant

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