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dbVar

Database of genomic structural variation

nsv4674384

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,651,421

Description:
See descriptions for individual calls in download files
Publication(s):Gregg et al. 2016

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: 21954 SVs from 124 studies. See in: genome view

Remapped(Score: Good):914,086-5,565,506

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674384	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	914,086	5,565,506
nsv4674384	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	849,466	5,625,566

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207698	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001005059.1, VCV000814047.1	1
nssv17976900	copy number loss	Multiple	Multiple	1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome	Pathogenic	ClinVar	RCV002280715.1, VCV001703627.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207698	Remapped	Good	NC_000001.11:g.(?_ 914086)_(5565506_? )del	GRCh38.p12	First Pass	NC_000001.11	Chr1	914,086	5,565,506
nssv17976900	Remapped	Good	NC_000001.11:g.(?_ 914086)_(5565506_? )del	GRCh38.p12	First Pass	NC_000001.11	Chr1	914,086	5,565,506
nssv16207698	Submitted genomic		NC_000001.10:g.(?_ 849466)_(5625566_? )del	GRCh37 (hg19)		NC_000001.10	Chr1	849,466	5,625,566
nssv17976900	Submitted genomic		NC_000001.10:g.(?_ 849466)_(5625566_? )del	GRCh37 (hg19)		NC_000001.10	Chr1	849,466	5,625,566

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
nssv16207698	GRCh37: NC_000001.10:g.(?_849466)_(5625566_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001005059.1, VCV000814047.1	1
nssv17976900	GRCh37: NC_000001.10:g.(?_849466)_(5625566_?)del	copy number loss	unknown	1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome	Pathogenic	ClinVar	RCV002280715.1, VCV001703627.1

No genotype data were submitted for this variant

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