A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027907



Internal ID18770438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31894934..32128228hg38UCSC Ensembl
Innerchr5:31895040..32128334hg19UCSC Ensembl
Innerchr5:31930797..32164091hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38233295
hg19233295
hg18233295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3745869
Samples
Known GenesGOLPH3, MIR4279, PDZD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027907
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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