A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648170



Internal ID18946451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150789498..150839030hg38UCSC Ensembl
Innerchr5:150169060..150218592hg19UCSC Ensembl
Innerchr5:150149253..150198785hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3849533
hg1949533
hg1849533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016129
Supporting Variants
Samples
Known GenesSMIM3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648170
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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