A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15757407



Internal ID22091881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579042..6579177hg38UCSC Ensembl
chr12:6688208..6688343hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4443876
Supporting Variants
Samples
Known GenesCHD4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15757407
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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