A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17100593



Internal ID21444395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13887180..13887387hg38UCSC Ensembl
chr18:13887179..13887386hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586789
Supporting Variants
SamplesHG00732
Known GenesMC2R
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17100593
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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