A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3497649



Internal ID19085290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227013552..227081142hg38UCSC Ensembl
Innerchr1:227201253..227268843hg19UCSC Ensembl
Innerchr1:225267876..225335466hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3867591
hg1967591
hg1867591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014423
Supporting Variants
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3497649
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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