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dbVar

Database of genomic structural variation

nsv6312117

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:29,264

Description:
See descriptions for individual calls in download files
Publication(s):Sloan et al. 2008

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: 209 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):7,870,795-7,900,058

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312117	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	7,870,795	7,900,058
nsv6312117	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	7,870,908	7,900,171

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970938	deletion	Multiple	Multiple	Disorders of Intracellular Cobalamin Metabolism; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE; Homocystinuria without methylmalonic aciduria; Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type; Methylcobalamin deficiency type cblE; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001949406.3, VCV001458061.3
nssv17973720	duplication	Multiple	Multiple	Disorders of Intracellular Cobalamin Metabolism; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE; Homocystinuria without methylmalonic aciduria; Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type; Methylcobalamin deficiency type cblE; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV002034938.3, VCV001345119.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970938	Remapped	Perfect	NC_000005.10:g.(?_ 7870795)_(7900058_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	7,870,795	7,900,058
nssv17973720	Remapped	Perfect	NC_000005.10:g.(?_ 7870795)_(7900058_ ?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	7,870,795	7,900,058
nssv17970938	Submitted genomic		NC_000005.9:g.(?_7 870908)_(7900171_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	7,870,908	7,900,171
nssv17973720	Submitted genomic		NC_000005.9:g.(?_7 870908)_(7900171_? )dup	GRCh37 (hg19)		NC_000005.9	Chr5	7,870,908	7,900,171

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
nssv17970938	GRCh37: NC_000005.9:g.(?_7870908)_(7900171_?)del	deletion	germline	Disorders of Intracellular Cobalamin Metabolism; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE; Homocystinuria without methylmalonic aciduria; Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type; Methylcobalamin deficiency type cblE; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001949406.3, VCV001458061.3
nssv17973720	GRCh37: NC_000005.9:g.(?_7870908)_(7900171_?)dup	duplication	germline	Disorders of Intracellular Cobalamin Metabolism; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE; Homocystinuria without methylmalonic aciduria; Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type; Methylcobalamin deficiency type cblE; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV002034938.3, VCV001345119.3

No genotype data were submitted for this variant

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