A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946731



Internal ID18593581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149550533..149551380hg38UCSC Ensembl
Innerchr1:144219994..144220840hg19UCSC Ensembl
Innerchr1:142931351..142932197hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38848
hg19847
hg18847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2580740, nssv2580742, nssv2580738, nssv2579782, nssv2579781, nssv2580739, nssv2579787, nssv2579783, nssv2580744, nssv2580745, nssv2580746, nssv2579786, nssv2579785, nssv2579780, nssv2580741, nssv2579779, nssv2579784, nssv2580743, nssv2579788, nssv2580737
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946731
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