A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034208



Internal ID19123430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42119026..42290657hg38UCSC Ensembl
Innerchr5:42119128..42290759hg19UCSC Ensembl
Innerchr5:42154885..42326516hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38171632
hg19171632
hg18171632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3637102
Samples
Known GenesLOC101926960
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034208
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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