A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002653



Internal ID18745185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151790048..151841876hg38UCSC Ensembl
Innerchr3:151507836..151559664hg19UCSC Ensembl
Innerchr3:152990526..153042354hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3851829
hg1951829
hg1851829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4919n100
Supporting Variantsnssv3606175
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002653
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