A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060904



Internal ID20627944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50773801..50776500hg38UCSC Ensembl
chr1:51239473..51242172hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331232
Supporting Variants
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060904
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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