A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999205



Internal ID18812055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130159287..130388694hg38UCSC Ensembl
Innerchr2:130916860..131146267hg19UCSC Ensembl
Innerchr2:130633330..130862737hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38229408
hg19229408
hg18229408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4073n100
Supporting Variantsnssv3580836
Samples
Known GenesCCDC115, IMP4, MZT2B, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999205
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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