A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902931



Internal ID2771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3585575..4260086hg38UCSC Ensembl
chr1:3502139..4320146hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38674512
hg19818008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428297
Supporting Variants
Samples
Known GenesC1orf174, CCDC27, CEP104, DFFB, LINC01134, LOC728716, LRRC47, MEGF6, SMIM1, TP73, TP73-AS1, TPRG1L, WRAP73
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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