A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142313



Internal ID19247727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:158308056..158309106hg38UCSC Ensembl
Outerchr2:159164568..159165618hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993813
SamplesKWS1
Known GenesCCDC148
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142313
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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