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dbVar

Database of genomic structural variation

nsv6310679

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:432,853

Description:NC_000001.10:g.(?_150044213)_(150477474_?)dup AND Congenital neutropenia-myelofibrosis-nephromegaly syndrome

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: 1387 SVs from 64 studies. See in: genome view

Remapped(Score: Good):150,072,146-150,504,998

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310679	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	150,072,146	150,504,998
nsv6310679	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	150,044,213	150,477,474

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970657	duplication	Multiple	Multiple	Congenital neutropenia-myelofibrosis-nephromegaly syndrome; Congenital neutropenia-myelofibrosis-nephromegaly syndrome; NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5	Uncertain significance	ClinVar	RCV001920742.2, VCV001411622.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970657	Remapped	Good	NC_000001.11:g.(?_ 150072146)_(150504 998_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	150,072,146	150,504,998
nssv17970657	Submitted genomic		NC_000001.10:g.(?_ 150044213)_(150477 474_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	150,044,213	150,477,474

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
nssv17970657	GRCh37: NC_000001.10:g.(?_150044213)_(150477474_?)dup	duplication	germline	Congenital neutropenia-myelofibrosis-nephromegaly syndrome; Congenital neutropenia-myelofibrosis-nephromegaly syndrome; NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5	Uncertain significance	ClinVar	RCV001920742.2, VCV001411622.2

No genotype data were submitted for this variant

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