A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2383768



Internal ID17807056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154336837..154338531hg38UCSC Ensembl
Innerchr5:153716397..153718091hg19UCSC Ensembl
Innerchr5:153696590..153698284hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381695
hg191695
hg181695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964964
Supporting Variants
SamplesHGDP00778
Known GenesGALNT10
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)nssv2383768
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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