A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561330



Internal ID334313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44983377..49709767hg38UCSC Ensembl
chr13:45557512..50283903hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg384726391
hg194726392
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687373
Samples
Known GenesARL11, CAB39L, CDADC1, COG3, CPB2, CPB2-AS1, CYSLTR2, EBPL, ESD, FAM194B, FNDC3A, GPALPP1, GTF2F2, HTR2A, HTR2A-AS1, ITM2B, KCTD4, KIAA0226L, KPNA3, LCP1, LINC00441, LINC00462, LINC00563, LPAR6, LRCH1, LRRC63, MED4, MED4-AS1, MLNR, NUDT15, NUFIP1, PHF11, RB1, RCBTB1, RCBTB2, SETDB2, SIAH3, SLC25A30, SNORA31, SPERT, SUCLA2, TPT1, TPT1-AS1, ZC3H13
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561330
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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