A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6566785



Internal ID20939856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125931297..130096571hg38UCSC Ensembl
chr3:125650140..129815414hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384165275
hg194165275
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5005n223
Supporting Variantsnssv18259562
Samples
Known GenesABTB1, ACAD9, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L, ALG1L2, C3orf22, C3orf27, C3orf56, CCDC37, CHCHD6, CHST13, CNBP, COPG1, DNAJB8, DNAJB8-AS1, EEFSEC, EFCAB12, EFCC1, GATA2, GP9, H1FOO, H1FX, H1FX-AS1, HMCES, IFT122, ISY1, ISY1-RAB43, KBTBD12, KIAA1257, KLF15, LOC100506907, LOC653712, LOC90246, MBD4, MCM2, MGLL, MIR6825, MIR6826, NUP210P1, PLXNA1, PLXND1, PODXL2, RAB43, RAB7A, RHO, ROPN1B, RPL32P3, RPN1, RUVBL1, SEC61A1, SLC41A3, SNORA7B, TMCC1, TMCC1-AS1, TPRA1, TRH, TXNRD3, TXNRD3NB, UROC1, ZXDC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6566785
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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