A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902985



Internal ID2808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51313202..51545141hg38UCSC Ensembl
chr1:51778874..52010813hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38231940
hg19231940
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562377
Supporting Variants
Samples
Known GenesEPS15, TTC39A
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902985
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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