A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443603



Internal ID22501473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78682327..78682327hg38UCSC Ensembl
chr8:79594562..79594562hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5953295
Supporting Variants
Samples
Known GenesZC2HC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443603
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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