A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126571



Internal ID20693611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161400140..161400640hg38UCSC Ensembl
chr5:160827146..160827646hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405938
Supporting Variants
Samples
Known GenesGABRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126571
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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