A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961454



Internal ID18250014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96012107..96036109hg38UCSC Ensembl
Innerchr2:96677855..96701857hg19UCSC Ensembl
Innerchr2:96041582..96065584hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3824003
hg1924003
hg1824003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2188056, nssv2188051, nssv2188048, nssv2188047, nssv2188055, nssv2188050, nssv2188053, nssv2188049, nssv2188054, nssv2188052
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAHD2CP, GPAT2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961454
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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