A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1934230



Internal ID17446993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57957269..57968890hg38UCSC Ensembl
Innerchr12:58351052..58362673hg19UCSC Ensembl
Innerchr12:56637319..56648940hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3811622
hg1911622
hg1811622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975500
Supporting Variants
SamplesHGDP00778
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)nssv1934230
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer