A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005845



Internal ID18748376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55655908..56114191hg38UCSC Ensembl
Innerchr4:56522075..56980357hg19UCSC Ensembl
Innerchr4:56216832..56675114hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38458284
hg19458283
hg18458283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739448
Samples
Known GenesCEP135, EXOC1, LOC644145
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005845
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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