A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034023



Internal ID19123245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32115305..32158337hg38UCSC Ensembl
Innerchr5:32115411..32158443hg19UCSC Ensembl
Innerchr5:32151168..32194200hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3843033
hg1943033
hg1843033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5624n100
Supporting Variantsnssv3637035, nssv3745958, nssv3637034, nssv3745957
Samples
Known GenesGOLPH3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034023
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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