A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1924444



Internal ID17762213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37462893..38053899hg38UCSC Ensembl
Innerchr12:37856695..38447701hg19UCSC Ensembl
Innerchr12:36142861..36733968hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38591007
hg19591007
hg18591108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976600
Supporting Variants
SamplesHGDP00542
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)nssv1924444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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