A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005305



Internal ID18747836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32621236..32791665hg38UCSC Ensembl
Innerchr2:32846303..33016732hg19UCSC Ensembl
Innerchr2:32699807..32870236hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38170430
hg19170430
hg18170430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3751n100
Supporting Variantsnssv3728000, nssv3728001, nssv3728002
Samples
Known GenesMIR4765, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005305
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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