A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3684221



Internal ID18635816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19657638..19785802hg38UCSC Ensembl
Innerchr8:19515149..19643313hg19UCSC Ensembl
Innerchr8:19559429..19687593hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38128165
hg19128165
hg18128165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021731
Supporting Variants
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3684221
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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