A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2666811



Internal ID17838878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94831576..94834670hg38UCSC Ensembl
Innerchr2:95497321..95500415hg19UCSC Ensembl
Innerchr2:94861048..94864142hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383095
hg193095
hg183095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979233
Supporting Variants
SamplesHGDP00998
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)nssv2666811
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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