A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2165954



Internal ID17422747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8729022..8729921hg38UCSC Ensembl
Innerchr2:8869152..8870051hg19UCSC Ensembl
Innerchr2:8786603..8787502hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38900
hg19900
hg18900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961016
Supporting Variants
SamplesHGDP00542
Known GenesKIDINS220
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)nssv2165954
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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