A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1930700



Internal ID17450455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52517309..52519155hg38UCSC Ensembl
Innerchr12:52911093..52912939hg19UCSC Ensembl
Innerchr12:51197360..51199206hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973067
Supporting Variants
SamplesHGDP00778
Known GenesKRT5
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)nssv1930700
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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