A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2069722



Internal ID17440028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87915039..87922650hg38UCSC Ensembl
Innerchr16:87948645..87956256hg19UCSC Ensembl
Innerchr16:86506146..86513757hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg387612
hg197612
hg187612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974842
Supporting Variants
SamplesHGDP00665
Known GenesCA5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2069722
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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