A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983582



Internal ID18618775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45337109..45337732hg38UCSC Ensembl
Innerchr13:45911244..45911867hg19UCSC Ensembl
Innerchr13:44809244..44809867hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38624
hg19624
hg18624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1962644, nssv1962646, nssv1962647, nssv1962639, nssv1962638, nssv1962640, nssv1962643, nssv1962642, nssv1962641, nssv1962645
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNORA31, TPT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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