A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114120



Internal ID19281440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:100985121..100985199hg38UCSC Ensembl
Outerchr2:101601583..101601661hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973602
SamplesKWS2
Known GenesNPAS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114120
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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