A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15181399



Internal ID21320195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29420474..29420815hg38UCSC Ensembl
chr12:29573407..29573748hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949439
Supporting Variants
SamplesHG002
Known GenesOVCH1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15181399
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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