A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2174955



Internal ID17852334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62559753..62562449hg38UCSC Ensembl
Innerchr2:62786888..62789584hg19UCSC Ensembl
Innerchr2:62640392..62643088hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg382697
hg192697
hg182697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963238
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2174955
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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