A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384040



Internal ID22441910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40392609..40392817hg38UCSC Ensembl
chr1:40858281..40858489hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885941
Supporting Variants
Samples
Known GenesSMAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384040
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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