A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428297



Internal ID207174
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 StatusM
Merged Variants
Supporting Variantsnssv16902931
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)nsv5428297
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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