A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967099



Internal ID18602328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185235915..185246506hg38UCSC Ensembl
Innerchr3:184953703..184964294hg19UCSC Ensembl
Innerchr3:186436397..186446988hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3810592
hg1910592
hg1810592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2299434, nssv2299435, nssv2299436, nssv2299438, nssv2299437, nssv2299432, nssv2299431, nssv2299433, nssv2299439, nssv2299430
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEHHADH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967099
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