A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962002



Internal ID18597248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130029150..130044137hg38UCSC Ensembl
Innerchr2:130786723..130801710hg19UCSC Ensembl
Innerchr2:130503193..130518180hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3814988
hg1914988
hg1814988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2669930, nssv2669932, nssv2669931, nssv2669934, nssv2669936, nssv2669938, nssv2669939, nssv2669937, nssv2669933, nssv2669935
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAR2P1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962002
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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