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dbVar

Database of genomic structural variation

nsv4683242

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:717,670

Description:
See descriptions for individual calls in download files
Publication(s):Ganetzky 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: 1174 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):18,641,994-19,359,663

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683242	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	18,641,994	19,359,663
nsv4683242	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	18,660,114	19,377,781

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214839	deletion	Multiple	Multiple	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD; Pyruvate dehydrogenase E1-alpha deficiency	Pathogenic	ClinVar	RCV001033913.1, VCV000833472.2
nssv17172004	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001391037.1, VCV000833472.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214839	Remapped	Perfect	NC_000023.11:g.(?_ 18641994)_(1935966 3_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	18,641,994	19,359,663
nssv17172004	Remapped	Perfect	NC_000023.11:g.(?_ 18641994)_(1935966 3_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	18,641,994	19,359,663
nssv16214839	Submitted genomic		NC_000023.10:g.(?_ 18660114)_(1937778 1_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	18,660,114	19,377,781
nssv17172004	Submitted genomic		NC_000023.10:g.(?_ 18660114)_(1937778 1_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	18,660,114	19,377,781

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
nssv16214839	GRCh37: NC_000023.10:g.(?_18660114)_(19377781_?)del	deletion	germline	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD; Pyruvate dehydrogenase E1-alpha deficiency	Pathogenic	ClinVar	RCV001033913.1, VCV000833472.2
nssv17172004	GRCh37: NC_000023.10:g.(?_18660114)_(19377781_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001391037.1, VCV000833472.2

No genotype data were submitted for this variant

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