A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15181376



Internal ID21320172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579042..6579177hg38UCSC Ensembl
chr12:6688208..6688343hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953927
Supporting Variants
SamplesHG002
Known GenesCHD4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15181376
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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