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dbVar

Database of genomic structural variation

nsv6310678

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:6,958,101

Description:
See descriptions for individual calls in download files

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: 19818 SVs from 128 studies. See in: genome view

Remapped(Score: Good):149,923,542-156,881,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310678	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	149,923,542	156,881,642
nsv6310678	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	149,895,434	156,851,434

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971628	duplication	Multiple	Multiple	Congenital neutropenia-myelofibrosis-nephromegaly syndrome; Congenital neutropenia-myelofibrosis-nephromegaly syndrome; NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5	Uncertain significance	ClinVar	RCV001958271.8, VCV001445481.31
nssv17971630	duplication	Multiple	Multiple	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; IMMUNODEFICIENCY 42; IMD42	Uncertain significance	ClinVar	RCV001958273.8, VCV001445481.31
nssv17972909	duplication	Multiple	Multiple	BARE LYMPHOCYTE SYNDROME, TYPE II; Bare lymphocyte syndrome 2; Bare lymphocyte syndrome 2; Immunodeficiency by defective expression of HLA class 2	Uncertain significance	ClinVar	RCV001992607.8, VCV001445481.31
nssv18787093	duplication	Multiple	Multiple	Kostmann syndrome; Kostmann syndrome; NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3	Uncertain significance	ClinVar	RCV003120769.7, VCV001445481.31

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971628	Remapped	Good	NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	149,923,542	156,881,642
nssv17971630	Remapped	Good	NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	149,923,542	156,881,642
nssv17972909	Remapped	Good	NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	149,923,542	156,881,642
nssv18787093	Remapped	Good	NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	149,923,542	156,881,642
nssv17971628	Submitted genomic		NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	149,895,434	156,851,434
nssv17971630	Submitted genomic		NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	149,895,434	156,851,434
nssv17972909	Submitted genomic		NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	149,895,434	156,851,434
nssv18787093	Submitted genomic		NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	149,895,434	156,851,434

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
nssv17971628	GRCh37: NC_000001.10:g.(?_149895434)_(156851434_?)dup	duplication	germline	Congenital neutropenia-myelofibrosis-nephromegaly syndrome; Congenital neutropenia-myelofibrosis-nephromegaly syndrome; NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5	Uncertain significance	ClinVar	RCV001958271.8, VCV001445481.31
nssv17971630	GRCh37: NC_000001.10:g.(?_149895434)_(156851434_?)dup	duplication	germline	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; IMMUNODEFICIENCY 42; IMD42	Uncertain significance	ClinVar	RCV001958273.8, VCV001445481.31
nssv17972909	GRCh37: NC_000001.10:g.(?_149895434)_(156851434_?)dup	duplication	germline	BARE LYMPHOCYTE SYNDROME, TYPE II; Bare lymphocyte syndrome 2; Bare lymphocyte syndrome 2; Immunodeficiency by defective expression of HLA class 2	Uncertain significance	ClinVar	RCV001992607.8, VCV001445481.31
nssv18787093	GRCh37: NC_000001.10:g.(?_149895434)_(156851434_?)dup	duplication	germline	Kostmann syndrome; Kostmann syndrome; NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3	Uncertain significance	ClinVar	RCV003120769.7, VCV001445481.31

No genotype data were submitted for this variant

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