A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343729



Internal ID21001282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63002201..63003100hg38UCSC Ensembl
chr2:63229336..63230235hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089199
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343729
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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