A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945969



Internal ID18592819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58047578..58056540hg38UCSC Ensembl
Innerchr1:58513250..58522212hg19UCSC Ensembl
Innerchr1:58285838..58294800hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg388963
hg198963
hg188963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770737, nssv1770732, nssv1770733, nssv1770738, nssv1770734, nssv1770735, nssv1770740, nssv1770739, nssv1770736, nssv1770731
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDAB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945969
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