A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178454



Internal ID21317250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219456893..219456961hg38UCSC Ensembl
chr2:220321615..220321683hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953599
Supporting Variants
SamplesHG002
Known GenesSPEG
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178454
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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