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dbVar

Database of genomic structural variation

nsv3914878

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:16,674,303

Description:NCBI36/hg18 5q32-34(chr5:146538010-163175431)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: 39890 SVs from 130 studies. See in: genome view

Remapped(Score: Good):147,160,892-163,835,194

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
nsv3914878	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	147,160,892	147,160,892	163,835,194	163,835,194
nsv3914878	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	146,540,455	146,540,455	163,262,200	163,262,200
nsv3914878	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	146,520,648	146,538,010	163,175,431	163,194,778

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15130656	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453819.2, VCV000393692.2	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
nssv15130656	Remapped	Good	NC_000005.10:g.(14 7160892_147160892) _(163835194_163835 194)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	147,160,892	147,160,892	163,835,194	163,835,194
nssv15130656	Remapped	Good	NC_000005.9:g.(146 540455_146540455)_ (163262200_1632622 00)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	146,540,455	146,540,455	163,262,200	163,262,200
nssv15130656	Submitted genomic		NC_000005.8:g.(146 520648_146538010)_ (163175431_1631947 78)dup	NCBI36 (hg18)		NC_000005.8	Chr5	146,520,648	146,538,010	163,175,431	163,194,778

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
nssv15130656	NCBI36: NC_000005.8:g.(146520648_146538010)_(163175431_163194778)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000453819.2, VCV000393692.2	3

No genotype data were submitted for this variant

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