A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6587098



Internal ID20960169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70939082..79478721hg38UCSC Ensembl
chr12:71332862..79872501hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg388539640
hg198539640
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18217684
Samples
Known GenesATXN7L3B, BBS10, CAPS2, CSRP2, E2F7, GLIPR1, GLIPR1L1, GLIPR1L2, KCNC2, KRR1, LGR5, LOC100507377, MIR1252, MIR5692B, MRS2P2, NAP1L1, NAV3, OSBPL8, PHLDA1, RAB21, SYT1, TBC1D15, THAP2, TMEM19, TPH2, TRHDE, TRHDE-AS1, TSPAN8, ZDHHC17, ZFC3H1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6587098
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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