A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2377957



Internal ID17495338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140723815..140732851hg38UCSC Ensembl
Innerchr5:140103400..140112436hg19UCSC Ensembl
Innerchr5:140083584..140092620hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg389037
hg199037
hg189037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980733
Supporting Variants
SamplesHGDP00998
Known GenesVTRNA1-3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2377957
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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