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dbVar

Database of genomic structural variation

nsv4455839

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:381,269

Description:GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)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: 1003 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):66,867,993-67,249,261

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4455839	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	66,867,993	67,249,261
nsv4455839	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	67,780,228	68,161,496

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776083	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000848585.2, VCV000687894.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15776083	Remapped	Perfect	NC_000008.11:g.(?_ 66867993)_(6724926 1_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	66,867,993	67,249,261
nssv15776083	Submitted genomic		NC_000008.10:g.(?_ 67780228)_(6816149 6_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	67,780,228	68,161,496

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
nssv15776083	GRCh37: NC_000008.10:g.(?_67780228)_(68161496_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000848585.2, VCV000687894.2	3

No genotype data were submitted for this variant

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