A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389123



Internal ID22446993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869986..52997049hg38UCSC Ensembl
chr1:53335658..53462721hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38127064
hg19127064
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971838
Supporting Variants
Samples
Known GenesECHDC2, SCP2, ZYG11A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389123
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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