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dbVar

Database of genomic structural variation

nsv4455983

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:39,328,462

Description:GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 AND not provided

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: 98587 SVs from 135 studies. See in: genome view

Remapped(Score: Good):90,653,301-129,981,762

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4455983	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	90,653,301	129,981,762
nsv4455983	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	89,949,118	129,317,455

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776426	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000849289.2, VCV000688598.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15776426	Remapped	Good	NC_000005.10:g.(?_ 90653301)_(1299817 62_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	90,653,301	129,981,762
nssv15776426	Submitted genomic		NC_000005.9:g.(?_8 9949118)_(12931745 5_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	89,949,118	129,317,455

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
nssv15776426	GRCh37: NC_000005.9:g.(?_89949118)_(129317455_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000849289.2, VCV000688598.2	3

No genotype data were submitted for this variant

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