A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17126485



Internal ID21417640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42555085..42555153hg38UCSC Ensembl
chr4:42557102..42557170hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5583925
Supporting Variants
SamplesHG00731
Known GenesATP8A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17126485
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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