A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192501



Internal ID22343078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219631151..219642900hg38UCSC Ensembl
chr2:220495873..220507622hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3811750
hg1911750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296708, nssv14296712, nssv14296709, nssv14296706, nssv14296714, nssv14296713, nssv14296710, nssv14296707, nssv14296711
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC4A3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192501
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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