A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979875



Internal ID18615076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127749483..127750552hg38UCSC Ensembl
Innerchr3:127468326..127469395hg19UCSC Ensembl
Innerchr3:128951016..128952085hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381070
hg191070
hg181070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2294265, nssv2294262, nssv2294264, nssv2294269, nssv2294263, nssv2294266, nssv2294267, nssv2294270, nssv2294268, nssv2294261
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMGLL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979875
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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