A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977729



Internal ID18612935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:66490508..66491223hg38UCSC Ensembl
Innerchr15:66782846..66783561hg19UCSC Ensembl
Innerchr15:64569900..64570615hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38716
hg19716
hg18716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2028614, nssv2028610, nssv2028612, nssv2028617, nssv2028615, nssv2028613, nssv2028616, nssv2028611, nssv2028618, nssv2028619
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAP2K1, SNAPC5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977729
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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