A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489317



Internal ID22547236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214802604..214807408hg38UCSC Ensembl
chr2:215667328..215672132hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384805
hg194805
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832197
Supporting Variants
Samples
Known GenesBARD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489317
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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