A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130003



Internal ID19267131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168539010..168539367hg38UCSC Ensembl
Outerchr2:169395520..169395877hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2088n106
Supporting Variantsnssv3965145
SamplesKWS2
Known GenesCERS6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130003
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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