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dbVar

Database of genomic structural variation

nsv6309699

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:247,252

Description:
See descriptions for individual calls in download files
Publication(s):Misko 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: 558 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):66,776,444-67,023,695

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309699	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	66,776,444	67,023,695
nsv6309699	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	67,243,162	67,490,412

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970947	deletion	Multiple	Multiple	Encephalopathy due to sulfite oxidase deficiency; MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC; Molybdenum Cofactor Deficiency; Molybdenum cofactor deficiency, complementation group C	Pathogenic	ClinVar	RCV001949464.2, VCV001458284.2
nssv18788804	duplication	Multiple	Multiple	Encephalopathy due to sulfite oxidase deficiency; MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC; Molybdenum Cofactor Deficiency; Molybdenum cofactor deficiency, complementation group C	Likely pathogenic	ClinVar	RCV003109764.2, VCV002426613.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970947	Remapped	Perfect	NC_000014.9:g.(?_6 6776444)_(67023695 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	66,776,444	67,023,695
nssv18788804	Remapped	Perfect	NC_000014.9:g.(?_6 6776444)_(67023695 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	66,776,444	67,023,695
nssv17970947	Submitted genomic		NC_000014.8:g.(?_6 7243162)_(67490412 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	67,243,162	67,490,412
nssv18788804	Submitted genomic		NC_000014.8:g.(?_6 7243162)_(67490412 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	67,243,162	67,490,412

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
nssv17970947	GRCh37: NC_000014.8:g.(?_67243162)_(67490412_?)del	deletion	germline	Encephalopathy due to sulfite oxidase deficiency; MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC; Molybdenum Cofactor Deficiency; Molybdenum cofactor deficiency, complementation group C	Pathogenic	ClinVar	RCV001949464.2, VCV001458284.2
nssv18788804	GRCh37: NC_000014.8:g.(?_67243162)_(67490412_?)dup	duplication	germline	Encephalopathy due to sulfite oxidase deficiency; MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC; Molybdenum Cofactor Deficiency; Molybdenum cofactor deficiency, complementation group C	Likely pathogenic	ClinVar	RCV003109764.2, VCV002426613.2

No genotype data were submitted for this variant

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