A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18270586



Internal ID20837626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32527628..37403016hg38UCSC Ensembl
chr6:32495405..37370792hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384875389
hg194875388
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6562119
Supporting Variants
Samples
Known GenesANKS1A, ARMC12, B3GALT4, BAK1, BRD2, BRPF3, C6orf1, C6orf106, C6orf222, C6orf89, CDKN1A, CLPS, CLPSL1, CLPSL2, COL11A2, CPNE5, CUTA, DAXX, DEF6, ETV7, FANCE, FGD2, FKBP5, GGNBP1, GRM4, HCG25, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DPB2, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5, HLA-DRB6, HMGA1, HSD17B8, IP6K3, ITPR3, KCTD20, KIFC1, LEMD2, LHFPL5, LINC00336, LINC01016, LOC100294145, LOC285847, MAPK13, MAPK14, MIR1275, MIR219-1, MIR3925, MIR5004, MIR5690, MIR6834, MIR6835, MIR6873, MIR7111, MIR7159, MLN, MTCH1, NUDT3, PACSIN1, PFDN6, PHF1, PI16, PIM1, PNPLA1, PPARD, PPIL1, PSMB8, PSMB9, PXT1, RAB44, RGL2, RING1, RNF8, RPL10A, RPS10, RPS10-NUDT3, RPS18, RXRB, SCUBE3, SLC26A8, SLC39A7, SNRPC, SPDEF, SRPK1, SRSF3, STK38, SYNGAP1, TAF11, TAP1, TAP2, TAPBP, TAPSAR1, TBC1D22B, TCP11, TEAD3, TMEM217, TULP1, UHRF1BP1, UQCC2, VPS52, WDR46, ZBTB22, ZBTB9, ZNF76
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18270586
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00104


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