A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900570



Internal ID1168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33878442..33883437hg38UCSC Ensembl
chr1:34344043..34349038hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg384996
hg194996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433265
Supporting Variants
Samples
Known GenesCSMD2, LOC402779
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900570
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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