A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044037



Internal ID19133256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57138666..57192754hg38UCSC Ensembl
Innerchr13:57712800..57766888hg19UCSC Ensembl
Innerchr13:56610801..56664889hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3854089
hg1954089
hg1854089
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1664n100
Supporting Variantsnssv3523891, nssv3523893, nssv3523892, nssv3523894, nssv3523890
Samples
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044037
Frequency
Sample Size11257
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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