A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028414



Internal ID19117632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32171302..32383787hg38UCSC Ensembl
Innerchr7:32210914..32423399hg19UCSC Ensembl
Innerchr7:32177439..32389924hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38212486
hg19212486
hg18212486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6318n100
Supporting Variantsnssv3643369, nssv3643368, nssv3643370, nssv3643371, nssv3643372
Samples
Known GenesPDE1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028414
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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