A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13676724



Internal ID21198574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32253801..32253852hg38UCSC Ensembl
chr12:32406735..32406786hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791258
Supporting Variants
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13676724
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.34375


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