A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330925



Internal ID20864084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50947501..50992300hg38UCSC Ensembl
chr1:51413173..51457972hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3844800
hg1944800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201434
Samples
Known GenesCDKN2C, FAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330925
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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