A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132877



Internal ID18915033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78474775..78474847hg38UCSC Ensembl
Outerchr17:76470857..76470929hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987671
SamplesKWS1
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132877
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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