A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343874



Internal ID21001427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62987101..62988700hg38UCSC Ensembl
chr2:63214236..63215835hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089197
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343874
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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