A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6538365



Internal ID20911682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178815320..184820865hg38UCSC Ensembl
chr1:178784455..184789999hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386005546
hg196005545
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18247811
Samples
Known GenesABL2, ACBD6, ANGPTL1, APOBEC4, ARPC5, AXDND1, C1orf21, CACNA1E, CEP350, COLGALT2, DHX9, EDEM3, FAM129A, FAM163A, FAM20B, FLJ23867, GLUL, GM140, IER5, KIAA1614, LAMC1, LAMC2, LHX4, LINC00272, LOC100527964, LOC284648, LOC400799, MIR3121, MR1, NCF2, NMNAT2, NPHS2, NPL, QSOX1, RALGPS2, RGL1, RGS16, RGS8, RGSL1, RNASEL, SHCBP1L, SMG7, SMG7-AS1, SOAT1, STX6, TDRD5, TEDDM1, TOR1AIP1, TOR1AIP2, TOR3A, TSEN15, XPR1, ZNF648
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6538365
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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