A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801556



Internal ID21246894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223636620..223636620hg38UCSC Ensembl
chr1:223824322..223824322hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13683341
Samples
Known GenesCAPN8
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801556
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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