A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947410



Internal ID18247572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1657084..1663827hg38UCSC Ensembl
Innerchr1:1588534..1595266hg19UCSC Ensembl
Innerchr1:1578397..1585129hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386744
hg196733
hg186733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760684, nssv2765284, nssv2763764, nssv2758644, nssv2759096, nssv2762239, nssv2765500, nssv2761730, nssv2764181
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP01029, HGDP00456, HGDP00927
Known GenesCDK11B, SLC35E2B
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947410
Frequency
Sample Size10
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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