A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1931183



Internal ID17880660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52776354..52777554hg38UCSC Ensembl
Innerchr12:53170138..53171338hg19UCSC Ensembl
Innerchr12:51456405..51457605hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976622
Supporting Variants
SamplesHGDP01307
Known GenesKRT76
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)nssv1931183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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