A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2178171



Internal ID17861512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71975388..71989448hg38UCSC Ensembl
Innerchr2:72202518..72216578hg19UCSC Ensembl
Innerchr2:72056026..72070086hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3814061
hg1914061
hg1814061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963619
Supporting Variants
SamplesHGDP01284
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)nssv2178171
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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