A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2172261



Internal ID17388104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47796183..47797902hg38UCSC Ensembl
Innerchr2:48023322..48025041hg19UCSC Ensembl
Innerchr2:47876826..47878545hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381720
hg191720
hg181720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979002
Supporting Variants
SamplesHGDP00456
Known GenesMSH6
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)nssv2172261
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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