A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874122



Internal ID22649072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156234647..156235248hg38UCSC Ensembl
chr1:156204438..156205039hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357862
Samples
Known GenesPMF1, PMF1-BGLAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874122
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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