A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981500



Internal ID19207146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47570061..47570761hg38UCSC Ensembl
Outerchr2:47797200..47797900hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144896
Supporting Variants
SamplesKWS1
Known GenesKCNK12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981500
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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