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dbVar

Database of genomic structural variation

nsv7095005

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:80,457

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Authors/Task Force members et al. 2014, Berk et al. 2013, Green et al. 2013, Kalia et al. 2016, McNally et al. 2005, Miller et al. 2021, Miller et al. 2022, Sekijima et al. 2001

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: 326 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):31,518,219-31,598,675

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095005	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	31,518,219	31,598,675
nsv7095005	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	29,098,182	29,178,638

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789082	duplication	Multiple	Multiple	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 10; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003111112.2, VCV002422973.2
nssv18789083	duplication	Multiple	Multiple	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; ATTRV122I amyloidosis; ATTRV30M amyloidosis; Amyloidogenic transthyretin amyloidosis; Hereditary Transthyretin Amyloidosis; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003111113.1, VCV002422973.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789082	Remapped	Perfect	NC_000018.10:g.(?_ 31518219)_(3159867 5_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	31,518,219	31,598,675
nssv18789083	Remapped	Perfect	NC_000018.10:g.(?_ 31518219)_(3159867 5_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	31,518,219	31,598,675
nssv18789082	Submitted genomic		NC_000018.9:g.(?_2 9098182)_(29178638 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	29,098,182	29,178,638
nssv18789083	Submitted genomic		NC_000018.9:g.(?_2 9098182)_(29178638 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	29,098,182	29,178,638

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
nssv18789082	GRCh37: NC_000018.9:g.(?_29098182)_(29178638_?)dup	duplication	germline	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 10; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003111112.2, VCV002422973.2
nssv18789083	GRCh37: NC_000018.9:g.(?_29098182)_(29178638_?)dup	duplication	germline	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; ATTRV122I amyloidosis; ATTRV30M amyloidosis; Amyloidogenic transthyretin amyloidosis; Hereditary Transthyretin Amyloidosis; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003111113.1, VCV002422973.2

No genotype data were submitted for this variant

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