A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132525



Internal ID19284153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240692283..240693683hg38UCSC Ensembl
Outerchr2:241631700..241633100hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987307
SamplesKWS1
Known GenesAQP12A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132525
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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