A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347730



Internal ID21005283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192526053..192655493hg38UCSC Ensembl
chr2:193390779..193520219hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38129441
hg19129441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4234n223
Supporting Variantsnssv18081541
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347730
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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