A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890426



Internal ID167781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155047651..155175025hg38UCSC Ensembl
chr1:155020127..155147501hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38127375
hg19127375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423972
Supporting Variants
Samples
Known GenesADAM15, DCST1, DPM3, EFNA1, EFNA3, EFNA4, KRTCAP2, LOC100505666, SLC50A1, TRIM46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890426
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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