A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527436



Internal ID22396822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579048..6579177hg38UCSC Ensembl
chr12:6688214..6688343hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1701n152
Supporting Variantsnssv14362633, nssv14362634, nssv14362635, nssv14362632
SamplesNA19239, HG00732, NA19240, HG00733
Known GenesCHD4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527436
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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