A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791258



Internal ID21236596
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 StatusM
Merged Variants
Supporting Variantsnssv13676724
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791258
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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