A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006572



Internal ID19095789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119511339..119773088hg38UCSC Ensembl
Innerchr4:120432494..120694243hg19UCSC Ensembl
Innerchr4:120651942..120913691hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38261750
hg19261750
hg18261750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639349
Samples
Known GenesPDE5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006572
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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