A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1956502



Internal ID17871668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24543548..24609113hg38UCSC Ensembl
Innerchr13:25117686..25183251hg19UCSC Ensembl
Innerchr13:24015686..24081251hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3865566
hg1965566
hg1865566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974062
Supporting Variants
SamplesHGDP01284
Known GenesTPTE2P6
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)nssv1956502
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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