A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423972



Internal ID202977
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 StatusM
Merged Variants
Supporting Variantsnssv16890426
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)nsv5423972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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