A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1911596



Internal ID17761863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7179320..7188182hg38UCSC Ensembl
Innerchr12:7331916..7340778hg19UCSC Ensembl
Innerchr12:7223183..7232045hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388863
hg198863
hg188863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973009
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)nssv1911596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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