A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027556



Internal ID18770088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180951876..181064462hg38UCSC Ensembl
Innerchr5:180378876..180491462hg19UCSC Ensembl
Innerchr5:180311482..180424068hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38112587
hg19112587
hg18112587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5855n100
Supporting Variantsnssv3650314
Samples
Known GenesBTNL3, BTNL9, MIR8089
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027556
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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