A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946722



Internal ID18593572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145304875..145305636hg38UCSC Ensembl
Innerchr1:144211675..144212436hg19UCSC Ensembl
Innerchr1:142923032..142923793hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38762
hg19762
hg18762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2579217, nssv2579214, nssv2578255, nssv2579184, nssv2578253, nssv2579185, nssv2579182, nssv2579183, nssv2579218, nssv2579181, nssv2579216, nssv2579213, nssv2579215, nssv2579219, nssv2578252, nssv2579180, nssv2579211, nssv2578254, nssv2579212, nssv2579210
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)nsv946722
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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