A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977219



Internal ID18265739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24935560..24982709hg38UCSC Ensembl
Innerchr13:25509698..25556847hg19UCSC Ensembl
Innerchr13:24407698..24454847hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3847150
hg1947150
hg1847150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1956652, nssv1956644, nssv1956648, nssv1956649, nssv1956646, nssv1956647, nssv1956645, nssv1956651, nssv1956650, nssv1956643
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTPTE2P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977219
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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