A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191754



Internal ID22342420
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325529, nssv14325528, nssv14325530, nssv14325534, nssv14325531, nssv14325533, nssv14325532, nssv14325527, nssv14325535
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPACSIN1, SPDEF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191754
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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