A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120579



Internal ID19259308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134676633..134676705hg38UCSC Ensembl
Outerchr9:137568479..137568551hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962983
SamplesKWS1
Known GenesCOL5A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120579
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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