A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373036



Internal ID22598705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30715284..30715417hg38UCSC Ensembl
chr16:30726605..30726738hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943571
Supporting Variants
Samples
Known GenesSRCAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373036
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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