A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903048



Internal ID2848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56743073..56744690hg38UCSC Ensembl
chr1:57208746..57210363hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414025
Supporting Variants
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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