A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132524



Internal ID19269512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239914283..239916283hg38UCSC Ensembl
Outerchr2:240853700..240855700hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2188n106
Supporting Variantsnssv3987306
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132524
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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