A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946008



Internal ID18592858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78292287..78297252hg38UCSC Ensembl
Innerchr1:78757971..78762936hg19UCSC Ensembl
Innerchr1:78530559..78535524hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384966
hg194966
hg184966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1772428, nssv1772434, nssv1772431, nssv1772436, nssv1772432, nssv1772437, nssv1772429, nssv1772435, nssv1772433, nssv1772430
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMGC27382
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946008
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