A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052518



Internal ID19141737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57138666..57204234hg38UCSC Ensembl
Innerchr13:57712800..57778368hg19UCSC Ensembl
Innerchr13:56610801..56676369hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3865569
hg1965569
hg1865569
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1664n100
Supporting Variantsnssv3524010, nssv3524037, nssv3524000, nssv3524024, nssv3524039, nssv3714993, nssv3524038, nssv3523998, nssv3524009, nssv3524017, nssv3524032, nssv3524025, nssv3524015, nssv3524007, nssv3524016, nssv3524019, nssv3523997, nssv3523995, nssv3524043, nssv3524033, nssv3524041, nssv3524026, nssv3524036, nssv3524021, nssv3524028, nssv3524013, nssv3524018, nssv3524008, nssv3524042, nssv3524004, nssv3524012, nssv3524031, nssv3524006, nssv3524030, nssv3524035, nssv3524027, nssv3523994, nssv3524001, nssv3523993, nssv3524022, nssv3523996, nssv3524003, nssv3524002, nssv3524020, nssv3524023, nssv3524014, nssv3523999, nssv3524044, nssv3524005, nssv3524029, nssv3524011, nssv3524034, nssv3524040
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)nsv1052518
Frequency
Sample Size11257
Observed Gain44
Observed Loss9
Observed Complex0
Frequencyn/a


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