A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001146



Internal ID18743677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130110807..130365165hg38UCSC Ensembl
Innerchr2:130868380..131122738hg19UCSC Ensembl
Innerchr2:130584850..130839208hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38254359
hg19254359
hg18254359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4073n100
Supporting Variantsnssv3580832
Samples
Known GenesCCDC115, CCDC74B, IMP4, MED15P9, MZT2B, POTEF, 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)nsv1001146
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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