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dbVar

Database of genomic structural variation

nsv6112688

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:8,170,804

Description:Single allele AND multiple conditions

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: 18463 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):120,435,341-128,606,144

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6112688	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	120,435,341	120,435,341	128,606,144	128,606,144
nsv6112688	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	120,154,188	120,247,726	128,319,968	128,324,987

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17649862	deletion	Multiple	Multiple	Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML; LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA; Lymphedema, primary, with myelodysplasia	Pathogenic	ClinVar	RCV001541924.1, VCV001183989.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17649862	Remapped	Perfect	NC_000003.12:g.(12 0435341_120435341) _(128606144_128606 144)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	120,435,341	120,435,341	128,606,144	128,606,144
nssv17649862	Submitted genomic		NC_000003.11:g.(12 0154188_120247726) _(128319968_128324 987)del	GRCh37 (hg19)		NC_000003.11	Chr3	120,154,188	120,247,726	128,319,968	128,324,987

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
nssv17649862	GRCh37: NC_000003.11:g.(120154188_120247726)_(128319968_128324987)del	deletion	unknown	Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML; LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA; Lymphedema, primary, with myelodysplasia	Pathogenic	ClinVar	RCV001541924.1, VCV001183989.1

No genotype data were submitted for this variant

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