A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009347



Internal ID18751878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2200935..2516063hg38UCSC Ensembl
Innerchr4:2202662..2517790hg19UCSC Ensembl
Innerchr4:2172460..2487588hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38315129
hg19315129
hg18315129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616108
Samples
Known GenesHAUS3, LOC402160, MIR4800, MXD4, POLN, RNF4, ZFYVE28
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009347
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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