A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1930894



Internal ID17450767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52587410..52588003hg38UCSC Ensembl
Innerchr12:52981194..52981787hg19UCSC Ensembl
Innerchr12:51267461..51268054hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976621
Supporting Variants
SamplesHGDP00778
Known GenesKRT72
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)nssv1930894
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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