A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2169796



Internal ID17421603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38810331..38811755hg38UCSC Ensembl
Innerchr2:39037473..39038897hg19UCSC Ensembl
Innerchr2:38890977..38892401hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381425
hg191425
hg181425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978996
Supporting Variants
SamplesHGDP00542
Known GenesDHX57
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2169796
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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