A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041888



Internal ID19131107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57138666..57193352hg38UCSC Ensembl
Innerchr13:57712800..57767486hg19UCSC Ensembl
Innerchr13:56610801..56665487hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3854687
hg1954687
hg1854687
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1664n100
Supporting Variantsnssv3523905, nssv3523907, nssv3523900, nssv3523903, nssv3523899, nssv3523904, nssv3523911, nssv3523914, nssv3523910, nssv3523906, nssv3523909, nssv3523902, nssv3523901, nssv3523915, nssv3523898, nssv3523913, nssv3523897, nssv3523912, nssv3523908, nssv3523896
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)nsv1041888
Frequency
Sample Size11257
Observed Gain19
Observed Loss1
Observed Complex0
Frequencyn/a


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