A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580216



Internal ID18878497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110631043..112358403hg38UCSC Ensembl
Innerchr2:111388620..113115980hg19UCSC Ensembl
Innerchr2:111105089..112832451hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381727361
hg191727361
hg181727363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009609
Supporting Variants
Samples
Known GenesACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2, TMEM87B, ZC3H6, ZC3H8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580216
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