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dbVar

Database of genomic structural variation

nsv5380909

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:27,093

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Botkin et al. 2015, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lohmann et al. 2000, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, Trepanier et al. 2004

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: 165 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):48,452,979-48,480,071

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380909	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	48,452,979	48,480,071
nsv5380909	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	49,027,115	49,054,207

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866362	duplication	Multiple	Multiple	RETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001307933.5, VCV001010326.5
nssv17974994	deletion	Multiple	Multiple	RETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001929784.4, VCV001365385.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866362	Remapped	Perfect	NC_000013.11:g.(?_ 48452979)_(4848007 1_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	48,452,979	48,480,071
nssv17974994	Remapped	Perfect	NC_000013.11:g.(?_ 48452979)_(4848007 1_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	48,452,979	48,480,071
nssv16866362	Submitted genomic		NC_000013.10:g.(?_ 49027115)_(4905420 7_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	49,027,115	49,054,207
nssv17974994	Submitted genomic		NC_000013.10:g.(?_ 49027115)_(4905420 7_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	49,027,115	49,054,207

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
nssv16866362	GRCh37: NC_000013.10:g.(?_49027115)_(49054207_?)dup	duplication	germline	RETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001307933.5, VCV001010326.5
nssv17974994	GRCh37: NC_000013.10:g.(?_49027115)_(49054207_?)del	deletion	germline	RETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001929784.4, VCV001365385.4

No genotype data were submitted for this variant

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