A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6575523



Internal ID20948594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72881788..80095071hg38UCSC Ensembl
chr8:73794023..81007306hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg387213284
hg197213284
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18278656
Samples
Known GenesCASC9, CRISPLD1, FLJ39080, GDAP1, HEY1, HNF4G, IL7, JPH1, KCNB2, LINC01111, LOC100130301, LOC101241902, LY96, MIR2052, MIR5681A, MIR5681B, MRPS28, PEX2, PI15, PKIA, RDH10, RPL7, SBSPON, STAU2, STAU2-AS1, STMN2, TCEB1, TERF1, TMEM70, TPD52, UBE2W, ZC2HC1A, ZFHX4, ZFHX4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6575523
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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