A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946690



Internal ID18593540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149520082..149526276hg38UCSC Ensembl
Innerchr1:144186222..144187666hg19UCSC Ensembl
Innerchr1:142897579..142899023hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386195
hg191445
hg181445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2577301, nssv2577295, nssv2577303, nssv2577294, nssv2577244, nssv2577238, nssv2577298, nssv2577300, nssv2577241, nssv2577243, nssv2577296, nssv2577237, nssv2577240, nssv2577299, nssv2577302, nssv2577242, nssv2577239, nssv2577297, nssv2577245, nssv2577236
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)nsv946690
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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