A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984848



Internal ID18866692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54466363..54466607hg38UCSC Ensembl
Outerchr2:54693500..54693744hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126589
Supporting Variants
SamplesKWS1
Known GenesSPTBN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984848
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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