A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2656964



Internal ID17753941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14206184..14207695hg38UCSC Ensembl
Innerchr18:14206183..14207694hg19UCSC Ensembl
Innerchr18:14196183..14197694hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381512
hg191512
hg181512
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962894
Supporting Variants
SamplesHGDP00521
Known GenesANKRD20A5P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2656964
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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