A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18271282



Internal ID20838322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42194666..44186502hg38UCSC Ensembl
chr6:42162404..44154239hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381991837
hg191991836
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6566770
Supporting Variants
Samples
Known GenesABCC10, ATP6V0CP3, C6orf223, C6orf226, CAPN11, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, GLTSCR1L, GNMT, GTPBP2, GUCA1B, KLC4, KLHDC3, LOC100132354, LRRC73, MAD2L1BP, MEA1, MIR6780B, MRPL14, MRPL2, MRPS10, MRPS18A, PEX6, POLH, POLR1C, PPP2R5D, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SLC22A7, SRF, TBCC, TJAP1, TMEM63B, TRERF1, TTBK1, UBR2, VEGFA, XPO5, YIPF3, ZNF318
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18271282
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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