A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014723



Internal ID18757258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130720375..131379551hg38UCSC Ensembl
Innerchr2:131477948..132137124hg19UCSC Ensembl
Innerchr2:131194418..131853594hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38659177
hg19659177
hg18659177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580842
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014723
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