A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132893



Internal ID19281480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232897797..232897850hg38UCSC Ensembl
Outerchr2:233762507..233762560hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987687
SamplesKWS1
Known GenesNGEF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132893
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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