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dbVar

Database of genomic structural variation

nsv4675130

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:2,134,969

Description:GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4 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: 9790 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):179,060,248-181,195,216

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	179,060,248	181,195,216
nsv4675130	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	178,487,249	180,622,216

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16206794	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001005750.1, VCV000814763.1	4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16206794	Remapped	Perfect	NC_000005.10:g.(?_ 179060248)_(181195 216_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	179,060,248	181,195,216
nssv16206794	Submitted genomic		NC_000005.9:g.(?_1 78487249)_(1806222 16_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	178,487,249	180,622,216

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
nssv16206794	GRCh37: NC_000005.9:g.(?_178487249)_(180622216_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001005750.1, VCV000814763.1	4

No genotype data were submitted for this variant

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