A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346523



Internal ID21004076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237536290..237539684hg38UCSC Ensembl
chr2:238444933..238448327hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083835
Samples
Known GenesMLPH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346523
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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