A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969011



Internal ID18257553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:169951559..169958073hg38UCSC Ensembl
Innerchr5:169378563..169385077hg19UCSC Ensembl
Innerchr5:169311141..169317655hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg386515
hg196515
hg186515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2385013, nssv2385009, nssv2385014, nssv2385011, nssv2385015, nssv2385008, nssv2385016, nssv2385010, nssv2385012, nssv2385017
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDOCK2, FAM196B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969011
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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