A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187804



Internal ID21326635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3640963..3640963hg38UCSC Ensembl
chr2:3688553..3688553hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3925283
Supporting Variants
SamplesHG002
Known GenesCOLEC11
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187804
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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