A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195738



Internal ID22345870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39013190..39013559hg38UCSC Ensembl
chr4:39014810..39015179hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14314916, nssv14314917, nssv14314918, nssv14314914, nssv14314915
SamplesHG00512, NA19238, NA19239, HG00513, HG00514
Known GenesTMEM156
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195738
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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