A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902049



Internal ID2161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37552748..37554003hg38UCSC Ensembl
chr1:38018349..38019604hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419479
Supporting Variants
Samples
Known GenesSNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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