A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542115



Internal ID20915381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61925268..71371290hg38UCSC Ensembl
chr1:62390940..71836973hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg389446023
hg199446034
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18250505
Samples
Known GenesAK4, ALG6, ANGPTL3, ANKRD13C, ATG4C, C1orf141, CACHD1, CTH, DEPDC1, DIRAS3, DLEU2L, DNAJC6, DOCK7, EFCAB7, FOXD3, GADD45A, GNG12, GNG12-AS1, HHLA3, IL12RB2, IL23R, INADL, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LRRC40, LRRC7, MIER1, MIR101-1, MIR1262, MIR186, MIR3117, MIR3671, MIR4794, MIR6068, PDE4B, PGM1, PIN1P1, PTGER3, RAVER2, ROR1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TCTEX1D1, UBE2U, USP1, WDR78, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542115
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer