A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984795



Internal ID18877329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:17878433..17878833hg38UCSC Ensembl
Outerchr2:18059700..18060100hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126541
Supporting Variants
SamplesKWS1
Known GenesKCNS3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984795
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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