A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603035



Internal ID16390444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47934507..48733358hg38UCSC Ensembl
Innerchr6:47902243..48700995hg19UCSC Ensembl
Innerchr6:48010202..48808954hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38798852
hg19798753
hg18798753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1058569
Samples
Known GenesPTCHD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603035
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