A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1929258



Internal ID17464192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52241423..52246021hg38UCSC Ensembl
Innerchr12:52635207..52639805hg19UCSC Ensembl
Innerchr12:50921474..50926072hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975489
Supporting Variants
SamplesHGDP00927
Known GenesKRT7
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)nssv1929258
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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