A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042504



Internal ID18785035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48337128..48351221hg38UCSC Ensembl
Innerchr13:48911264..48925357hg19UCSC Ensembl
Innerchr13:47809265..47823358hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3814094
hg1914094
hg1814094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523441
Samples
Known GenesRB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042504
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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