A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812947



Internal ID21258285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60668257..60668257hg38UCSC Ensembl
chr5:59964084..59964084hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13706037
Samples
Known GenesDEPDC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812947
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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