A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2177729



Internal ID17782738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73620156..73644734hg38UCSC Ensembl
Innerchr2:73847283..73871861hg19UCSC Ensembl
Innerchr2:73700791..73725369hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3824579
hg1924579
hg1824579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979021
Supporting Variants
SamplesHGDP00665
Known GenesNAT8
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)nssv2177729
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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