A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6353822



Internal ID21011375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38726101..38743600hg38UCSC Ensembl
chr2:38953243..38970742hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3817500
hg1917500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3839n223
Supporting Variantsnssv18206930
Samples
Known GenesGALM, SRSF7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6353822
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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