A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2675240



Internal ID17871873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94822316..94823467hg38UCSC Ensembl
Innerchr2:95488061..95489212hg19UCSC Ensembl
Innerchr2:94851788..94852939hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381152
hg191152
hg181152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963816
Supporting Variants
SamplesHGDP01284
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2675240
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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