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dbVar

Database of genomic structural variation

nsv6290328

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:15,399,899

Description:GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 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: 47803 SVs from 131 studies. See in: genome view

Remapped(Score: Perfect):10,501-15,410,399

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290328	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	10,501	15,410,399
nsv6290328	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	10,501	15,410,398

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955800	copy number loss	Multiple	Multiple	CHROMOSOME 18p DELETION SYNDROME; Deletion of short arm of chromosome 18; Monosomy 18p	Pathogenic	ClinVar	RCV001801193.1, VCV001330176.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17955800	Remapped	Perfect	NC_000018.10:g.(?_ 10501)_(15410399_? )del	GRCh38.p12	First Pass	NC_000018.10	Chr18	10,501	15,410,399
nssv17955800	Submitted genomic		NC_000018.9:g.(?_1 0501)_(15410398_?) del	GRCh37 (hg19)		NC_000018.9	Chr18	10,501	15,410,398

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
nssv17955800	GRCh37: NC_000018.9:g.(?_10501)_(15410398_?)del	copy number loss	de novo	CHROMOSOME 18p DELETION SYNDROME; Deletion of short arm of chromosome 18; Monosomy 18p	Pathogenic	ClinVar	RCV001801193.1, VCV001330176.1	1

No genotype data were submitted for this variant

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