A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028549



Internal ID18771080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180932733..181015908hg38UCSC Ensembl
Innerchr5:180359733..180442908hg19UCSC Ensembl
Innerchr5:180292339..180375514hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3883176
hg1983176
hg1883176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5851n100
Supporting Variantsnssv3746700
Samples
Known GenesBTNL3, BTNL8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028549
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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