A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982306



Internal ID18617501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:74803817..74805509hg38UCSC Ensembl
Innerchr9:77418733..77420425hg19UCSC Ensembl
Innerchr9:76608553..76610245hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381693
hg191693
hg181693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2552498, nssv2552505, nssv2552504, nssv2552496, nssv2552500, nssv2552502, nssv2552497, nssv2552499, nssv2552501, nssv2552503
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTRPM6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982306
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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