A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325535



Internal ID22326227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34533351..34552100hg38UCSC Ensembl
chr6:34501128..34519877hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3818750
hg1918750
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191754
Supporting Variants
SamplesNA19240
Known GenesPACSIN1, SPDEF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325535
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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