A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959918



Internal ID19221405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:12706149..12706200hg38UCSC Ensembl
Outerchr2:12846275..12846326hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119475
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959918
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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