A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116631



Internal ID21504246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57190356..57190356hg38UCSC Ensembl
chr20:55765412..55765412hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5666707
Supporting Variants
SamplesNA19239
Known GenesBMP7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116631
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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