A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200402



Internal ID22349856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10727419..10727780hg38UCSC Ensembl
chr6:10727652..10728013hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14327412, nssv14327413, nssv14327414, nssv14327411
SamplesHG00512, NA19240, HG00513, HG00514
Known GenesTMEM14C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200402
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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