A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892485



Internal ID22667536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214803037..214806859hg38UCSC Ensembl
chr2:215667761..215671583hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383823
hg193823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400679
Samples
Known GenesBARD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892485
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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