A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762344



Internal ID19315252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45950433..45969334hg38UCSC Ensembl
chr17:44027799..44046700hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3818902
hg1918902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071390
Supporting Variants
SamplesKWP1
Known GenesMAPT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762344
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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