A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129051



Internal ID19247889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:68228284..68230284hg38UCSC Ensembl
Outerchr9:70843200..70845200hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961724
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129051
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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