A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342723



Internal ID21000276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38728101..38744100hg38UCSC Ensembl
chr2:38955243..38971242hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3816000
hg1916000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3839n223
Supporting Variantsnssv18206935
Samples
Known GenesGALM, SRSF7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342723
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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