A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977199



Internal ID18612405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19467306..19564270hg38UCSC Ensembl
Innerchr13:20041446..20138410hg19UCSC Ensembl
Innerchr13:18939446..19036410hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3896965
hg1996965
hg1896965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1952340, nssv1952338, nssv1952339, nssv1952344, nssv1952342, nssv1952335, nssv1952341, nssv1952337, nssv1952343, nssv1952336
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPTE2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977199
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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