A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18250505



Internal ID20817545
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 StatusS
Merged Variantsnsv6542115
Supporting Variants
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)nssv18250505
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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