A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341104



Internal ID20998657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202429001..202448200hg38UCSC Ensembl
chr2:203293724..203312923hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3819200
hg1919200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4257n223
Supporting Variantsnssv18084642
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341104
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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