A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048599



Internal ID19137818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54569291..54901907hg38UCSC Ensembl
Innerchr13:55143426..55476042hg19UCSC Ensembl
Innerchr13:54041427..54374043hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38332617
hg19332617
hg18332617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1656n100
Supporting Variantsnssv3523854, nssv3714984, nssv3714983, nssv3523855
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048599
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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