A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767268



Internal ID19305861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48384388..48385689hg38UCSC Ensembl
chr16:48418299..48419600hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1069942
Supporting Variants
SamplesKWP1
Known GenesMIR548AE2, SIAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767268
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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