A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2176300



Internal ID17424919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69608279..69612442hg38UCSC Ensembl
Innerchr2:69835411..69839574hg19UCSC Ensembl
Innerchr2:69688915..69693078hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384164
hg194164
hg184164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961414
Supporting Variants
SamplesHGDP00542
Known GenesAAK1
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)nssv2176300
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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