A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406067



Internal ID22463937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232378488..232406528hg38UCSC Ensembl
chr2:233243198..233271238hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3828041
hg1928041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892806
Supporting Variants
Samples
Known GenesALPP, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406067
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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