A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948030



Internal ID18248190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:59788818..59790404hg38UCSC Ensembl
Innerchr10:61548576..61550162hg19UCSC Ensembl
Innerchr10:61218582..61220168hg18UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg381587
hg191587
hg181587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1852448, nssv1852443, nssv1852442, nssv1852441, nssv1852445, nssv1852446, nssv1852444, nssv1852449, nssv1852440, nssv1852447
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCCDC6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948030
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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