A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003432



Internal ID18745963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30592120..30626477hg38UCSC Ensembl
Innerchr2:30814986..30849343hg19UCSC Ensembl
Innerchr2:30668490..30702847hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3834358
hg1934358
hg1834358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579139, nssv3579140
Samples
Known GenesLCLAT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003432
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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