A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129594



Internal ID19255013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:51936545..51936632hg38UCSC Ensembl
Outerchr17:50013905..50013992hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963866
SamplesKWS1
Known GenesCA10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129594
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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