A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2697178



Internal ID17807977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50665526..50670597hg38UCSC Ensembl
Innerchr5:49961360..49966431hg19UCSC Ensembl
Innerchr5:49997117..50002188hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg385072
hg195072
hg185072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968172
Supporting Variants
SamplesHGDP00778
Known GenesPARP8
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2697178
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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