A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946712



Internal ID18246876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148542534..148543181hg38UCSC Ensembl
Innerchr1:144202820..144203491hg19UCSC Ensembl
Innerchr1:142914177..142914848hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38648
hg19672
hg18672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2579927, nssv2579935, nssv2579871, nssv2579929, nssv2579873, nssv2579877, nssv2579870, nssv2579875, nssv2579869, nssv2579876, nssv2579868, nssv2579930, nssv2579874, nssv2579872, nssv2579928, nssv2579934, nssv2579931, nssv2579933, nssv2579932, nssv2579936
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)nsv946712
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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