A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348501



Internal ID21006054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119639008..119656415hg38UCSC Ensembl
chr2:120396584..120413991hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3817408
hg1917408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075885
Samples
Known GenesPCDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348501
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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