A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974102



Internal ID18609315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76928055..76933280hg38UCSC Ensembl
Innerchr13:77502189..77507414hg19UCSC Ensembl
Innerchr13:76400190..76405415hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385226
hg195226
hg185226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1970194, nssv1970195, nssv1970199, nssv1970196, nssv1970197, nssv1970193, nssv1970198, nssv1970190, nssv1970192, nssv1970191
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBTF3P11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974102
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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