A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978462



Internal ID18613667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76225745..76228468hg38UCSC Ensembl
Innerchr17:74221826..74224549hg19UCSC Ensembl
Innerchr17:71733421..71736144hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382724
hg192724
hg182724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2111097, nssv2111088, nssv2111094, nssv2111090, nssv2111095, nssv2111089, nssv2111092, nssv2111096, nssv2111093, nssv2111091
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRNF157
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978462
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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