A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1928031



Internal ID17533124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52446620..52452276hg38UCSC Ensembl
Innerchr12:52840404..52846060hg19UCSC Ensembl
Innerchr12:51126671..51132327hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385657
hg195657
hg185657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983325
Supporting Variants
SamplesHGDP01307
Known GenesKRT6B
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)nssv1928031
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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