A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960100



Internal ID18248667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39201047..39205233hg38UCSC Ensembl
Innerchr17:37357300..37361486hg19UCSC Ensembl
Innerchr17:34610826..34615012hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384187
hg194187
hg184187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2095275, nssv2095272, nssv2095267, nssv2095266, nssv2095268, nssv2095269, nssv2095271, nssv2095274, nssv2095273, nssv2095270
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL19
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960100
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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