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dbVar

Database of genomic structural variation

nsv3920607

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:10,853,279

Description:NCBI36/hg18 3q27.2-29(chr3:187121562-197936041)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: 36046 SVs from 137 studies. See in: genome view

Remapped(Score: Good):185,882,146-196,735,424

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
nsv3920607	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	185,882,146	185,882,146	196,735,424	196,735,424
nsv3920607	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	185,599,934	185,599,934	196,462,295	196,462,295
nsv3920607	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	187,082,628	187,121,562	197,936,041	197,946,692

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128822	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452869.2, VCV000397988.2	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
nssv15128822	Remapped	Good	NC_000003.12:g.(18 5882146_185882146) _(196735424_196735 424)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	185,882,146	185,882,146	196,735,424	196,735,424
nssv15128822	Remapped	Good	NC_000003.11:g.(18 5599934_185599934) _(196462295_196462 295)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	185,599,934	185,599,934	196,462,295	196,462,295
nssv15128822	Submitted genomic		NC_000003.10:g.(18 7082628_187121562) _(197936041_197946 692)del	NCBI36 (hg18)		NC_000003.10	Chr3	187,082,628	187,121,562	197,936,041	197,946,692

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
nssv15128822	NCBI36: NC_000003.10:g.(187082628_187121562)_(197936041_197946692)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000452869.2, VCV000397988.2	1

No genotype data were submitted for this variant

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