A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999731



Internal ID17292683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54054317..54056216hg38UCSC Ensembl
Outerchr12:54448101..54450000hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952182
Supporting Variants
SamplesBILGI_BIOE
Known GenesHOXC4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999731
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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