A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351080



Internal ID22576749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197688840..197692031hg38UCSC Ensembl
chr1:197657970..197661161hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383192
hg193192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883709
Supporting Variants
Samples
Known GenesDENND1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351080
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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