A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981513



Internal ID18863374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105744543..105745443hg38UCSC Ensembl
Outerchr2:106361000..106361900hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144909
Supporting Variants
SamplesKWS1
Known GenesNCK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981513
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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