A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973077



Internal ID18608292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57982690..57984639hg38UCSC Ensembl
Innerchr12:58376473..58378422hg19UCSC Ensembl
Innerchr12:56662740..56664689hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381950
hg191950
hg181950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932760, nssv1934325, nssv1932758, nssv1934328, nssv1934326, nssv1934329, nssv1932761, nssv1932762, nssv1932759, nssv1934327
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973077
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