A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962329



Internal ID18250887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45497931..45555048hg38UCSC Ensembl
Innerchr17:43575297..43632414hg19UCSC Ensembl
Innerchr17:40931080..40988197hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3857118
hg1957118
hg1857118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2097982, nssv2097981, nssv2097980, nssv2097979, nssv2097986, nssv2097985, nssv2097978, nssv2097987, nssv2097984, nssv2097983
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC37A4P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962329
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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