A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945833



Internal ID18245997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25294559..25338846hg38UCSC Ensembl
Innerchr1:25621050..25665337hg19UCSC Ensembl
Innerchr1:25493637..25537924hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3844288
hg1944288
hg1844288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1765689, nssv1765690, nssv1765687, nssv1765692, nssv1765686, nssv1765688, nssv1765684, nssv1765685, nssv1765683, nssv1765691
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRHD, TMEM50A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945833
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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