A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110520



Internal ID19261000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:33385202..33394002hg38UCSC Ensembl
Outerchr9:33385200..33394000hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg388801
hg198801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960173
SamplesKWS1
Known GenesAQP7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110520
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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