A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2549467



Internal ID17775974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:64348610..64501791hg38UCSC Ensembl
Innerchr9:69361028..69514209hg19UCSC Ensembl
Innerchr9:68650848..68804029hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38153182
hg19153182
hg18153182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982292
Supporting Variants
SamplesHGDP00542
Known GenesANKRD20A4
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)nssv2549467
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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