A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2731182



Internal ID17868411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:64405320..64406835hg38UCSC Ensembl
Innerchr9:43096279..43097795hg19UCSC Ensembl
Innerchr9:43086275..43087791hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg381516
hg191517
hg181517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973615
Supporting Variants
SamplesHGDP01284
Known GenesANKRD20A2, ANKRD20A3
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)nssv2731182
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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