A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1952341



Internal ID17762961
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 StatusS
Merged Variantsnsv977199
Supporting Variants
SamplesHGDP00542
Known GenesTPTE2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1952341
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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