A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539790



Internal ID314670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5227438..39583816hg38UCSC Ensembl
chr21:9411194..40955743hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733764
Samples
Known GenesABCC13, ADAMTS1, ADAMTS5, ANKRD20A11P, ANKRD30BP2, APP, ATP5J, ATP5O, BACH1, BAGE, BAGE2, BAGE3, BAGE4, BAGE5, BRWD1, BRWD1-AS1, BRWD1-IT2, BTG3, C21orf119, C21orf140, C21orf15, C21orf37, C21orf49, C21orf54, C21orf59, C21orf62, C21orf91, C21orf91-OT1, CBR1, CBR3, CBR3-AS1, CCT8, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, CRYZL1, CXADR, CYYR1, D21S2088E, DNAJC28, DONSON, DOPEY2, DSCR10, DSCR3, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ETS2, EVA1C, GABPA, GART, GRIK1, GRIK1-AS1, GRIK1-AS2, HLCS, HMGN1, HSPA13, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, IL10RB-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KRTAP11-1, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00189, LINC00307, LINC00308, LINC00310, LINC00314, LINC00317, LINC00320, LINC00478, LINC00515, LINC00649, LINC00945, LIPI, LOC100133286, LOC100506385, LOC100506403, LOC339622, LOC388813, LTN1, MAP3K7CL, MIR125B2, MIR155, MIR155HG, MIR3156-3, MIR3648, MIR3687, MIR4327, MIR4759, MIR5009, MIR6501, MIR6508, MIR802, MIR8069, MIR99A, MIRLET7C, MIS18A, MORC3, MRAP, MRPL39, MRPS6, N6AMT1, NCAM2, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PIGP, POTED, PSMG1, RBM11, RCAN1, RIPPLY3, RNU6-67P, RUNX1, RUNX1-IT1, RWDD2B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SH3BGR, SIM2, SLC5A3, SMIM11, SNORA80, SOD1, SON, SYNJ1, TCP10L, TEKT4P2, TIAM1, TMEM50B, TMPRSS15, TPTE, TTC3, URB1, USP16, USP25, WRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539790
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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