A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17071346



Internal ID21436743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80627643..80627643hg38UCSC Ensembl
chr10:82387399..82387399hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629603
Supporting Variants
SamplesHG00731
Known GenesSH2D4B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17071346
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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