A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6563554



Internal ID20936625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126481307..130612263hg38UCSC Ensembl
chr3:126200150..130331107hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384130957
hg194130958
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5005n223
Supporting Variantsnssv18259569
Samples
Known GenesABTB1, ACAD9, ALG1L2, C3orf22, C3orf27, C3orf56, CHCHD6, CHST13, CNBP, COL6A4P2, COL6A5, COL6A6, COPG1, DNAJB8, DNAJB8-AS1, EEFSEC, EFCAB12, EFCC1, FAM86HP, GATA2, GP9, H1FOO, H1FX, H1FX-AS1, HMCES, IFT122, ISY1, ISY1-RAB43, KBTBD12, KIAA1257, LOC653712, LOC90246, MBD4, MCM2, MGLL, MIR6825, MIR6826, NUP210P1, PLXNA1, PLXND1, PODXL2, RAB43, RAB7A, RHO, RPL32P3, RPN1, RUVBL1, SEC61A1, SNORA7B, TMCC1, TMCC1-AS1, TPRA1, TRH, TXNRD3, TXNRD3NB, UROC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6563554
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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