A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946665



Internal ID18246829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148575565..148576221hg38UCSC Ensembl
Innerchr1:144164757..144165475hg19UCSC Ensembl
Innerchr1:142876114..142876832hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38657
hg19719
hg18719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2585636, nssv2586206, nssv2585635, nssv2586209, nssv2585640, nssv2585637, nssv2585634, nssv2585633, nssv2586207, nssv2586213, nssv2585639, nssv2585631, nssv2585632, nssv2585638, nssv2586204, nssv2586208, nssv2586210, nssv2586211, nssv2586205, nssv2586212
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946665
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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