A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966883



Internal ID18255426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128467027..128502527hg38UCSC Ensembl
Innerchr7:128107081..128142581hg19UCSC Ensembl
Innerchr7:127894317..127929817hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3835501
hg1935501
hg1835501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2478494, nssv2478490, nssv2478489, nssv2478486, nssv2478492, nssv2478491, nssv2478493, nssv2478488, nssv2478487, nssv2478485
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMETTL2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966883
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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