A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787430



Internal ID15734700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8226629..8235430hg38UCSC Ensembl
Innerchr12:8379225..8388026hg19UCSC Ensembl
Innerchr12:8270492..8279293hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388802
hg198802
hg188802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557337
Supporting Variants
Samples
Known GenesFAM86FP, FAM90A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787430
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