A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1931906



Internal ID17744868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52812870..52813900hg38UCSC Ensembl
Innerchr12:53206654..53207684hg19UCSC Ensembl
Innerchr12:51492921..51493951hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976623
Supporting Variants
SamplesHGDP00521
Known GenesKRT4
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)nssv1931906
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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