A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973065



Internal ID18261594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51106796..51107385hg38UCSC Ensembl
Innerchr12:51500579..51501168hg19UCSC Ensembl
Innerchr12:49786846..49787435hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1929912, nssv1929907, nssv1929911, nssv1929913, nssv1929906, nssv1929910, nssv1929909, nssv1929915, nssv1929908, nssv1929914
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTFCP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973065
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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