A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404938



Internal ID22462808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124046663..124046720hg38UCSC Ensembl
chr2:124804240..124804297hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900417
Supporting Variants
Samples
Known GenesCNTNAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404938
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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