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dbVar

Database of genomic structural variation

nsv4457129

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:59,718

Description:GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1 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: 261 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):90,644,420-90,704,137

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457129	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	90,644,420	90,704,137
nsv4457129	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	89,940,237	89,999,954

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15772847	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848447.2, VCV000687756.2	1
nssv15773654	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000850023.2, VCV000689328.2	1
nssv15776039	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848491.2, VCV000687800.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15772847	Remapped	Perfect	NC_000005.10:g.(?_ 90644420)_(9070413 7_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	90,644,420	90,704,137
nssv15773654	Remapped	Perfect	NC_000005.10:g.(?_ 90644420)_(9070413 7_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	90,644,420	90,704,137
nssv15776039	Remapped	Perfect	NC_000005.10:g.(?_ 90644420)_(9070413 7_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	90,644,420	90,704,137
nssv15772847	Submitted genomic		NC_000005.9:g.(?_8 9940237)_(89999954 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	89,940,237	89,999,954
nssv15773654	Submitted genomic		NC_000005.9:g.(?_8 9940237)_(89999954 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	89,940,237	89,999,954
nssv15776039	Submitted genomic		NC_000005.9:g.(?_8 9940237)_(89999954 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	89,940,237	89,999,954

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15772847	GRCh37: NC_000005.9:g.(?_89940237)_(89999954_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000848447.2, VCV000687756.2	1
nssv15773654	GRCh37: NC_000005.9:g.(?_89940237)_(89999954_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000850023.2, VCV000689328.2	1
nssv15776039	GRCh37: NC_000005.9:g.(?_89940237)_(89999954_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000848491.2, VCV000687800.2	1

No genotype data were submitted for this variant

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