A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1921141



Internal ID17744280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22611820..22619038hg38UCSC Ensembl
Innerchr12:22764754..22771972hg19UCSC Ensembl
Innerchr12:22656021..22663239hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387219
hg197219
hg187219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976586
Supporting Variants
SamplesHGDP00521
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)nssv1921141
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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