A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968182



Internal ID18603410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62389645..62390801hg38UCSC Ensembl
Innerchr5:61685472..61686628hg19UCSC Ensembl
Innerchr5:61721229..61722385hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381157
hg191157
hg181157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2356746, nssv2356748, nssv2356753, nssv2356749, nssv2356751, nssv2356745, nssv2356754, nssv2356750, nssv2356747, nssv2356752
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDIMT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968182
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer