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dbVar

Database of genomic structural variation

nsv3920130

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:8,716,939

Description:NCBI36/hg18 1p21.1-13.2(chr1:103454883-112214842)x1 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: 25417 SVs from 136 studies. See in: genome view

Remapped(Score: Good):103,191,699-111,908,637

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
nsv3920130	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	103,191,699	103,191,699	111,908,637	111,908,637
nsv3920130	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	103,657,255	103,657,255	112,451,259	112,451,259
nsv3920130	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	103,429,843	103,454,883	112,214,842	112,252,782

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126818	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451380.2, VCV000401883.2	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
nssv15126818	Remapped	Good	NC_000001.11:g.(10 3191699_103191699) _(111908637_111908 637)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	103,191,699	103,191,699	111,908,637	111,908,637
nssv15126818	Remapped	Good	NC_000001.10:g.(10 3657255_103657255) _(112451259_112451 259)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	103,657,255	103,657,255	112,451,259	112,451,259
nssv15126818	Submitted genomic		NC_000001.9:g.(103 429843_103454883)_ (112214842_1122527 82)del	NCBI36 (hg18)		NC_000001.9	Chr1	103,429,843	103,454,883	112,214,842	112,252,782

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
nssv15126818	NCBI36: NC_000001.9:g.(103429843_103454883)_(112214842_112252782)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451380.2, VCV000401883.2	1

No genotype data were submitted for this variant

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