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dbVar

Database of genomic structural variation

nsv6312550

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:367,226

Description:NC_000006.11:g.(?_121401917)_(121769142_?)del AND Oculodentodigital dysplasia, autosomal recessive

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: 1012 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):121,080,771-121,447,996

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312550	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	121,080,771	121,447,996
nsv6312550	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	121,401,917	121,769,142

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972155	deletion	Multiple	Multiple	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE; Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive	Uncertain significance	ClinVar	RCV001968041.3, VCV001441871.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972155	Remapped	Perfect	NC_000006.12:g.(?_ 121080771)_(121447 996_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	121,080,771	121,447,996
nssv17972155	Submitted genomic		NC_000006.11:g.(?_ 121401917)_(121769 142_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	121,401,917	121,769,142

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
nssv17972155	GRCh37: NC_000006.11:g.(?_121401917)_(121769142_?)del	deletion	germline	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE; Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive	Uncertain significance	ClinVar	RCV001968041.3, VCV001441871.3

No genotype data were submitted for this variant

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