A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178752



Internal ID21317548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239068848..239068945hg38UCSC Ensembl
chr2:239990544..239990641hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934577
Supporting Variants
SamplesHG002
Known GenesHDAC4, MIR4440
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178752
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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