A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007475



Internal ID18750006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110308696..112358403hg38UCSC Ensembl
Innerchr2:111066273..113115980hg19UCSC Ensembl
Innerchr2:110500766..112832451hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382049708
hg192049708
hg182331686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4047n100
Supporting Variantsnssv3580215
Samples
Known GenesACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, LIMS3, LIMS3L, LIMS3-LOC440895, LINC01106, LINC01123, LOC100288570, LOC440895, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2, RGPD5, RGPD6, RGPD8, 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)nsv1007475
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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