A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2560976



Internal ID17771998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:96942053..97012395hg38UCSC Ensembl
Innerchr9:99704335..99774677hg19UCSC Ensembl
Innerchr9:98744156..98814498hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3870343
hg1970343
hg1870343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv972789
Supporting Variants
SamplesHGDP00542
Known GenesHIATL2, NUTM2G
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)nssv2560976
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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