A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980773



Internal ID18878686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53998116..53999716hg38UCSC Ensembl
Outerchr12:54391900..54393500hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143563
Supporting Variants
SamplesKWS1
Known GenesHOXC-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980773
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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