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dbVar

Database of genomic structural variation

nsv5672896

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:11,229,462

Description:
Single allele AND Deletion of short arm of chromosome 18

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: 33440 SVs from 128 studies. See in: genome view

Remapped(Score: Perfect):2,656,076-13,885,537

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5672896	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	2,656,076	13,885,537
nsv5672896	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	2,656,075	13,885,536

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17173271	deletion	Multiple	Multiple	CHROMOSOME 18p DELETION SYNDROME; Deletion of short arm of chromosome 18; Monosomy 18p	Pathogenic	ClinVar	RCV001391667.1, VCV001077182.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17173271	Remapped	Perfect	NC_000018.10:g.265 6076_13885537del	GRCh38.p12	First Pass	NC_000018.10	Chr18	2,656,076	13,885,537
nssv17173271	Submitted genomic		NC_000018.9:g.2656 075_13885536del	GRCh37 (hg19)		NC_000018.9	Chr18	2,656,075	13,885,536

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
nssv17173271	GRCh37: NC_000018.9:g.2656075_13885536del	deletion	de novo	CHROMOSOME 18p DELETION SYNDROME; Deletion of short arm of chromosome 18; Monosomy 18p	Pathogenic	ClinVar	RCV001391667.1, VCV001077182.1	1

No genotype data were submitted for this variant

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