A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946377



Internal ID18593227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149811551..149812847hg38UCSC Ensembl
Innerchr1:149783106..149784402hg19UCSC Ensembl
Innerchr1:148049730..148051026hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381297
hg191297
hg181297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1798331, nssv1798329, nssv1798330, nssv1798326, nssv1798325, nssv1798333, nssv1798328, nssv1798327, nssv1798332, nssv1798334
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHIST2H2BF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946377
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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