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dbVar

Database of genomic structural variation

nsv3914615

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:140,858

Description:NCBI36/hg18 1q32.1(chr1:204242203-204358260)x3 AND See cases

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: 239 SVs from 52 studies. See in: genome view

Remapped(Score: Pass):206,127,786-206,268,643

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
nsv3914615	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	206,127,786	206,127,786	206,268,643	-
nsv3914615	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	205,921,817	205,921,817	206,213,545	206,213,545
nsv3914615	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003871057.1	Chr1\|NW_00 3871057.1	118,640	118,640	259,498	-
nsv3914615	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	204,188,440	204,242,203	204,358,260	204,380,168

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124856	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000451138.2, VCV000401694.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15124856	Remapped	Pass	NC_000001.11:g.(20 6127786_206127786) _(206268643_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	206,127,786	206,127,786	206,268,643	-
nssv15124856	Remapped	Pass	NW_003871057.1:g.( 118640_118640)_(25 9498_?)dup	GRCh37.p13	Second Pass	NW_003871057.1	Chr1\|NW_00 3871057.1	118,640	118,640	259,498	-
nssv15124856	Remapped	Pass	NC_000001.10:g.(20 5921817_205921817) _(206213545_206213 545)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	205,921,817	205,921,817	206,213,545	206,213,545
nssv15124856	Submitted genomic		NC_000001.9:g.(204 188440_204242203)_ (204358260_2043801 68)dup	NCBI36 (hg18)		NC_000001.9	Chr1	204,188,440	204,242,203	204,358,260	204,380,168

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	Copy number
nssv15124856	NCBI36: NC_000001.9:g.(204188440_204242203)_(204358260_204380168)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000451138.2, VCV000401694.2	3

No genotype data were submitted for this variant

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