A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2697207



Internal ID17851863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50679986..50685149hg38UCSC Ensembl
Innerchr5:49975820..49980983hg19UCSC Ensembl
Innerchr5:50011577..50016740hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg385164
hg195164
hg185164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965013
Supporting Variants
SamplesHGDP01029
Known GenesPARP8
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2697207
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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