A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356743



Internal ID22582412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171830124..171854762hg38UCSC Ensembl
chr1:171799264..171823902hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3824639
hg1924639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874498
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356743
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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