A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3955502



Internal ID18877496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27438191..27438248hg38UCSC Ensembl
Outerchr2:27661058..27661115hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116367
Supporting Variants
SamplesKWS1
Known GenesNRBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3955502
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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