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dbVar

Database of genomic structural variation

nsv4451892

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:1,177,744

Description:NC_000021.8:g.(?_37133458)_(38311203_?)dup AND Holocarboxylase synthetase deficiency

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: 3506 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):35,761,160-36,938,903

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4451892	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	35,761,160	36,938,903
nsv4451892	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	37,133,458	38,311,203

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15771822	duplication	Multiple	Multiple	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; Holocarboxylase synthetase deficiency; Holocarboxylase synthetase deficiency	Uncertain significance	ClinVar	RCV000824666.4, VCV000666223.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15771822	Remapped	Perfect	NC_000021.9:g.(?_3 5761160)_(36938903 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	35,761,160	36,938,903
nssv15771822	Submitted genomic		NC_000021.8:g.(?_3 7133458)_(38311203 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	37,133,458	38,311,203

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
nssv15771822	GRCh37: NC_000021.8:g.(?_37133458)_(38311203_?)dup	duplication	germline	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; Holocarboxylase synthetase deficiency; Holocarboxylase synthetase deficiency	Uncertain significance	ClinVar	RCV000824666.4, VCV000666223.4

No genotype data were submitted for this variant

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