A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121233



Internal ID18909704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240019522..240019844hg38UCSC Ensembl
Outerchr2:240958939..240959261hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n106
Supporting Variantsnssv3964463
SamplesKWS2
Known GenesNDUFA10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121233
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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