A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2748281



Internal ID17791094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:80850418..80853923hg38UCSC Ensembl
Innerchr9:83465333..83468838hg19UCSC Ensembl
Innerchr9:82655153..82658658hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg383506
hg193506
hg183506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973755
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2748281
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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