A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004485



Internal ID19093703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:120621837..120795614hg38UCSC Ensembl
Innerchr4:121542992..121716769hg19UCSC Ensembl
Innerchr4:121762442..121936219hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38173778
hg19173778
hg18173778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639357
Samples
Known GenesPRDM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004485
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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