A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964112



Internal ID18252664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169166822..169168952hg38UCSC Ensembl
Innerchr4:170087973..170090103hg19UCSC Ensembl
Innerchr4:170324548..170326678hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382131
hg192131
hg182131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2342389, nssv2342382, nssv2342380, nssv2342383, nssv2342386, nssv2342387, nssv2342381, nssv2342385, nssv2342384, nssv2342388
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSH3RF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964112
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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