A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2175045



Internal ID17885686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62940032..62941444hg38UCSC Ensembl
Innerchr2:63167167..63168579hg19UCSC Ensembl
Innerchr2:63020671..63022083hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381413
hg191413
hg181413
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979009
Supporting Variants
SamplesHGDP01307
Known GenesEHBP1
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)nssv2175045
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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