A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801785



Internal ID16095741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:102154357..102176510hg38UCSC Ensembl
Innerchr12:102548135..102570288hg19UCSC Ensembl
Innerchr12:101072265..101094418hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3822154
hg1922154
hg1822154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560032
Supporting Variants
Samples
Known GenesPARPBP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801785
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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