A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548079



Internal ID20921275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178157654..187669944hg38UCSC Ensembl
chr2:179022381..188534671hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg389512291
hg199512291
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256291
Samples
Known GenesCALCRL, CCDC141, CERKL, CWC22, DFNB59, DNAJC10, DUSP19, FAM171B, FKBP7, FRZB, FSIP2, ITGA4, ITGAV, MIR1258, MIR4437, MIR548N, NCKAP1, NEUROD1, NUP35, OSBPL6, PDE1A, PLEKHA3, PPP1R1C, PRKRA, SCHLAP1, SESTD1, SSFA2, TFPI, TTN, TTN-AS1, UBE2E3, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548079
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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