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dbVar

Database of genomic structural variation

nsv4456265

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:850,914

Description:GRCh37/hg19 5q35.1(chr5:171171671-172022583)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: 2316 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):171,744,667-172,595,580

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4456265	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	171,744,667	172,595,580
nsv4456265	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	171,171,671	172,022,583

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774201	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000845589.2, VCV000684881.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774201	Remapped	Perfect	NC_000005.10:g.(?_ 171744667)_(172595 580_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	171,744,667	172,595,580
nssv15774201	Submitted genomic		NC_000005.9:g.(?_1 71171671)_(1720225 83_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	171,171,671	172,022,583

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
nssv15774201	GRCh37: NC_000005.9:g.(?_171171671)_(172022583_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000845589.2, VCV000684881.2	1

No genotype data were submitted for this variant

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