A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2316611



Internal ID17490279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37960527..37961027hg38UCSC Ensembl
Innerchr4:37962148..37962648hg19UCSC Ensembl
Innerchr4:37638543..37639043hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967737
Supporting Variants
SamplesHGDP00998
Known GenesPTTG2, TBC1D1
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)nssv2316611
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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