A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024604



Internal ID18767136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131861051..132088663hg38UCSC Ensembl
Innerchr5:131196744..131424356hg19UCSC Ensembl
Innerchr5:131224643..131452255hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38227613
hg19227613
hg18227613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648115
Samples
Known GenesACSL6, CSF2, IL3, LOC728637
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024604
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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