A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968170



Internal ID18603398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43231987..43233091hg38UCSC Ensembl
Innerchr5:43232089..43233193hg19UCSC Ensembl
Innerchr5:43267846..43268950hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381105
hg191105
hg181105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2354852, nssv2355384, nssv2354853, nssv2354849, nssv2355383, nssv2354851, nssv2355381, nssv2354854, nssv2354850, nssv2355382
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNIM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968170
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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