A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342612



Internal ID21000165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119319204..119873037hg38UCSC Ensembl
chr2:120076780..120630613hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38553834
hg19553834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206552
Samples
Known GenesC2orf76, DBI, PCDP1, PTPN4, SCTR, TMEM177, TMEM37
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342612
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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