A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139974



Internal ID21472705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56123034..56124640hg38UCSC Ensembl
chr5:55418861..55420467hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381607
hg191607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564868
Supporting Variants
SamplesHG03371
Known GenesANKRD55
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139974
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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