A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342430



Internal ID20999983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173070401..173079000hg38UCSC Ensembl
chr2:173935129..173943728hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207418
Samples
Known GenesZAK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342430
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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