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dbVar

Database of genomic structural variation

nsv6112714

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:8,961,613

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: 21158 SVs from 126 studies. See in: genome view

Remapped(Score: Perfect):128,208,869-137,170,481

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
nsv6112714	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	128,208,869	128,208,869	137,170,481	137,170,481
nsv6112714	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	127,927,712	127,966,423	136,853,218	136,889,323

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17649912	deletion	Multiple	Multiple	Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML; LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA; Lymphedema, primary, with myelodysplasia	Pathogenic	ClinVar	RCV001541925.1, VCV001183990.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17649912	Remapped	Perfect	NC_000003.12:g.(12 8208869_128208869) _(137170481_137170 481)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	128,208,869	128,208,869	137,170,481	137,170,481
nssv17649912	Submitted genomic		NC_000003.11:g.(12 7927712_127966423) _(136853218_136889 323)del	GRCh37 (hg19)		NC_000003.11	Chr3	127,927,712	127,966,423	136,853,218	136,889,323

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
nssv17649912	GRCh37: NC_000003.11:g.(127927712_127966423)_(136853218_136889323)del	deletion	unknown	Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML; LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA; Lymphedema, primary, with myelodysplasia	Pathogenic	ClinVar	RCV001541925.1, VCV001183990.1

No genotype data were submitted for this variant

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