A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406368



Internal ID22464238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159716557..159716628hg38UCSC Ensembl
chr2:160573068..160573139hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902464
Supporting Variants
Samples
Known GenesMARCH7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406368
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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