A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960011



Internal ID19222819
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 StatusS
Merged Variantsnsv1110361
Supporting Variants
SamplesKWS1
Known GenesNGEF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960011
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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