A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947017



Internal ID18593867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143495351..143501024hg38UCSC Ensembl
Innerchr1:148851882..148857594hg19UCSC Ensembl
Innerchr1:147118506..147124218hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385674
hg195713
hg185713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2602693, nssv2602699, nssv2602697, nssv2602695, nssv2602696, nssv2602694, nssv2602700, nssv2602692, nssv2602698, nssv2602691
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947017
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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