A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012512



Internal ID18755045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70103270..70215058hg38UCSC Ensembl
Innerchr4:70968987..71080775hg19UCSC Ensembl
Innerchr4:71003576..71115364hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38111789
hg19111789
hg18111789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5319n100
Supporting Variantsnssv3633073
Samples
Known GenesC4orf40, CSN1S2BP, ODAM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012512
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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