A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2620551



Internal ID17740456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18831586..18848373hg38UCSC Ensembl
Innerchr13:19405726..19422513hg19UCSC Ensembl
Innerchr13:18303726..18320513hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg3816788
hg1916788
hg1816788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983625
Supporting Variants
SamplesHGDP00456
Known GenesANKRD20A9P
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)nssv2620551
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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