A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036912



Internal ID20603952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55133601..55138000hg38UCSC Ensembl
chr17:53210962..53215361hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524494
Supporting Variants
Samples
Known GenesSTXBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036912
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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