A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128766



Internal ID19258854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:52406840..52409340hg38UCSC Ensembl
Outerchr17:50484200..50486700hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960679
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128766
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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