A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017067



Internal ID18759602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106985082..108550974hg38UCSC Ensembl
Innerchr5:106320783..107886675hg19UCSC Ensembl
Innerchr5:106348682..107914574hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381565893
hg191565893
hg181565893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3646991
Samples
Known GenesEFNA5, FBXL17, LOC102467213
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017067
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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