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dbVar

Database of genomic structural variation

nsv7094978

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,904

Description:
See descriptions for individual calls in download files
Publication(s):Banka et al. 2015

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: 131 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):44,074,140-44,076,043

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094978	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	44,074,140	44,076,043
nsv7094978	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	42,151,508	42,153,411

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788048	deletion	Multiple	Multiple	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; G6PC3 Deficiency; NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4	Pathogenic	ClinVar	RCV003123069.2, VCV002427235.2
nssv18788049	duplication	Multiple	Multiple	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; G6PC3 Deficiency; NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4	Uncertain significance	ClinVar	RCV003123070.2, VCV002427236.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788048	Remapped	Perfect	NC_000017.11:g.(?_ 44074140)_(4407604 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	44,074,140	44,076,043
nssv18788049	Remapped	Perfect	NC_000017.11:g.(?_ 44074140)_(4407604 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	44,074,140	44,076,043
nssv18788048	Submitted genomic		NC_000017.10:g.(?_ 42151508)_(4215341 1_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	42,151,508	42,153,411
nssv18788049	Submitted genomic		NC_000017.10:g.(?_ 42151508)_(4215341 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	42,151,508	42,153,411

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
nssv18788048	GRCh37: NC_000017.10:g.(?_42151508)_(42153411_?)del	deletion	germline	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; G6PC3 Deficiency; NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4	Pathogenic	ClinVar	RCV003123069.2, VCV002427235.2
nssv18788049	GRCh37: NC_000017.10:g.(?_42151508)_(42153411_?)dup	duplication	germline	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; G6PC3 Deficiency; NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4	Uncertain significance	ClinVar	RCV003123070.2, VCV002427236.2

No genotype data were submitted for this variant

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