A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443876



Internal ID22110057
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 StatusM
Merged Variants
Supporting Variantsnssv15757407
Samples
Known GenesCHD4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443876
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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