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dbVar

Database of genomic structural variation

nsv7098986

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:278,763

Description:NC_000005.9:g.(?_130766131)_(131044371_1310448
93)del AND Immunodeficiency 93 and hypertrophic cardiomyopathy
Publication(s):Saettini et al. 2021

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: 741 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):131,430,438-131,709,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv7098986	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	131,430,438	131,708,678	131,709,200
nsv7098986	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	130,766,131	131,044,371	131,044,893

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792891	deletion	Multiple	Multiple	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93; Immunodeficiency 93 and hypertrophic cardiomyopathy	Pathogenic	ClinVar	RCV001822078.1, VCV001335875.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv18792891	Remapped	Perfect	NC_000005.10:g.(?_ 131430438)_(131708 678_131709200)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	131,430,438	131,708,678	131,709,200
nssv18792891	Submitted genomic		NC_000005.9:g.(?_1 30766131)_(1310443 71_131044893)del	GRCh37 (hg19)		NC_000005.9	Chr5	130,766,131	131,044,371	131,044,893

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
nssv18792891	GRCh37: NC_000005.9:g.(?_130766131)_(131044371_131044893)del	deletion	germline	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93; Immunodeficiency 93 and hypertrophic cardiomyopathy	Pathogenic	ClinVar	RCV001822078.1, VCV001335875.1

No genotype data were submitted for this variant

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