A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1936954



Internal ID17843306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:75688799..75689389hg38UCSC Ensembl
Innerchr12:76082579..76083169hg19UCSC Ensembl
Innerchr12:74368846..74369436hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973092
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv1936954
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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