A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963630



Internal ID18598870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85261436..85262270hg38UCSC Ensembl
Innerchr2:85488559..85489393hg19UCSC Ensembl
Innerchr2:85342070..85342904hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38835
hg19835
hg18835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2180916, nssv2180915, nssv2180919, nssv2180914, nssv2180913, nssv2180917, nssv2180920, nssv2180912, nssv2180918, nssv2180911
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTCF7L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963630
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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