A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977107



Internal ID18265627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7125735..7126617hg38UCSC Ensembl
Innerchr16:7175736..7176618hg19UCSC Ensembl
Innerchr16:7115737..7116619hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38883
hg19883
hg18883
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2042436, nssv2042439, nssv2042444, nssv2042437, nssv2042443, nssv2042441, nssv2042440, nssv2042435, nssv2042442, nssv2042438
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRBFOX1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977107
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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