A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043246



Internal ID18785777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101490760..101532843hg38UCSC Ensembl
Innerchr13:102143111..102185194hg19UCSC Ensembl
Innerchr13:100941112..100983195hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3842084
hg1942084
hg1842084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713289
Samples
Known GenesITGBL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043246
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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