A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196749



Internal ID21335545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150366628..150366954hg38UCSC Ensembl
chr5:149746191..149746517hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939704
Supporting Variants
SamplesHG002
Known GenesTCOF1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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