A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135476



Internal ID19256344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31344670..31344844hg38UCSC Ensembl
Outerchr14:31813876..31814050hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1064n106
Supporting Variantsnssv3964826, nssv3988833
SamplesKWS2, KWS1
Known GenesHEATR5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135476
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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