A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970537



Internal ID22745472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48889540..49449733hg38UCSC Ensembl
chr17:46966902..47527095hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38560194
hg19560194
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375095
Samples
Known GenesABI3, ATP5G1, B4GALNT2, FLJ40194, GIP, GNGT2, IGF2BP1, MIR6129, PHB, PHOSPHO1, SNF8, UBE2Z, ZNF652
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970537
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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