A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449244



Internal ID22115421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6159980..6160176hg38UCSC Ensembl
chr1:6220040..6220236hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758814
Samples
Known GenesCHD5
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449244
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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