A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902976



Internal ID2802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51136821..51146659hg38UCSC Ensembl
chr1:51602493..51612331hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg389839
hg199839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428469
Supporting Variants
Samples
Known GenesC1orf185
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902976
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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