A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3616185



Internal ID18567780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7317384..7447535hg38UCSC Ensembl
Innerchr4:7319111..7449262hg19UCSC Ensembl
Innerchr4:7370012..7500162hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38130152
hg19130152
hg18130151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003679
Supporting Variants
Samples
Known GenesPSAPL1, SORCS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3616185
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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