A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960148



Internal ID18248715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68255993..68257410hg38UCSC Ensembl
Innerchr17:66252134..66253551hg19UCSC Ensembl
Innerchr17:63763729..63765146hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381418
hg191418
hg181418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2109488, nssv2109486, nssv2109484, nssv2109487, nssv2109485, nssv2109489, nssv2109482, nssv2109481, nssv2109483, nssv2109490
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAMZ2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960148
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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