A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110361



Internal ID19255266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232897390..232900790hg38UCSC Ensembl
Outerchr2:233762100..233765500hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960011
SamplesKWS1
Known GenesNGEF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110361
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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