A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111145



Internal ID18901810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5232350..5232438hg38UCSC Ensembl
Outerchr17:5135645..5135733hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962380
SamplesKWS1
Known GenesLOC100130950, SCIMP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111145
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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