A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2007030



Internal ID17883426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22494823..22497301hg38UCSC Ensembl
Innerchr15:23375795..23378273hg19UCSC Ensembl
Innerchr15:20927236..20929714hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg382479
hg192479
hg182479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977664
Supporting Variants
SamplesHGDP01307
Known GenesHERC2P2
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)nssv2007030
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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