A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352713



Internal ID22578382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100281694..100281694hg38UCSC Ensembl
chr10:102041451..102041451hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5964875
Supporting Variants
Samples
Known GenesBLOC1S2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352713
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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