A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981167



Internal ID19217968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8390470..8390970hg38UCSC Ensembl
Outerchr2:8530600..8531100hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118851
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981167
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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