A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138580



Internal ID18930068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75529731..75529793hg38UCSC Ensembl
Outerchr17:73525812..73525874hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991167
SamplesKWS2
Known GenesLLGL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138580
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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