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dbVar

Database of genomic structural variation

nsv6112685

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:5,607,312

Description:GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 AND Chromosome 1p36 deletion syndrome
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: 19968 SVs from 128 studies. See in: genome view

Remapped(Score: Good):2,488,564-8,095,875

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6112685	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	2,488,564	8,095,875
nsv6112685	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	2,420,003	8,155,935

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649982	copy number loss	Multiple	Multiple	1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome	not provided	ClinVar	RCV001535693.1, VCV001177499.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17649982	Remapped	Good	NC_000001.11:g.(?_ 2488564)_(8095875_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	2,488,564	8,095,875
nssv17649982	Submitted genomic		NC_000001.10:g.(?_ 2420003)_(8155935_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	2,420,003	8,155,935

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
nssv17649982	GRCh37: NC_000001.10:g.(?_2420003)_(8155935_?)del	copy number loss	unknown	1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome	not provided	ClinVar	RCV001535693.1, VCV001177499.1	1

No genotype data were submitted for this variant

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