A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981074



Internal ID18867044
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 StatusS
Merged Variantsnsv1118764
Supporting Variants
SamplesKWS1
Known GenesIGF2BP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981074
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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