A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1042107



Internal ID15548607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140835410..140848291hg38UCSC Ensembl
Innerchr5:140214995..140227876hg19UCSC Ensembl
Innerchr5:140195179..140208060hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3812882
hg1912882
hg1812882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599832
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1042107
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