A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3770219



Internal ID18964425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78540117..78541418hg38UCSC Ensembl
chr17:76536199..76537500hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071407
Supporting Variants
SamplesKWP1
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3770219
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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