A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118764



Internal ID18923947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49001738..49004338hg38UCSC Ensembl
Outerchr17:47079100..47081700hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981074
SamplesKWS1
Known GenesIGF2BP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118764
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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