A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419563



Internal ID22477433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3238072..3238133hg38UCSC Ensembl
chr4:3239799..3239860hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887796
Supporting Variants
Samples
Known GenesHTT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419563
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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