A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343918



Internal ID21001471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230871258..230871934hg38UCSC Ensembl
chr2:231735973..231736649hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086542
Samples
Known GenesITM2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343918
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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