A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044707



Internal ID19133926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:37492341..37540973hg38UCSC Ensembl
Innerchr13:38066478..38115110hg19UCSC Ensembl
Innerchr13:36964478..37013110hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3848633
hg1948633
hg1848633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1628n100
Supporting Variantsnssv3523256, nssv3523255
Samples
Known GenesLINC00547
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044707
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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