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dbVar

Database of genomic structural variation

nsv4455423

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:1,549,563

Description:GRCh37/hg19 4q13.3(chr4:70929700-72479262)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: 4303 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):70,063,983-71,613,545

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4455423	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	70,063,983	71,613,545
nsv4455423	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	70,929,700	72,479,262

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773408	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000849565.2, VCV000688874.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773408	Remapped	Perfect	NC_000004.12:g.(?_ 70063983)_(7161354 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	70,063,983	71,613,545
nssv15773408	Submitted genomic		NC_000004.11:g.(?_ 70929700)_(7247926 2_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	70,929,700	72,479,262

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
nssv15773408	GRCh37: NC_000004.11:g.(?_70929700)_(72479262_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000849565.2, VCV000688874.2	3

No genotype data were submitted for this variant

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