A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987687



Internal ID19213351
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 StatusS
Merged Variantsnsv1132893
Supporting Variants
SamplesKWS1
Known GenesNGEF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987687
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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