A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2758540



Internal ID17455010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111125682..111135485hg38UCSC Ensembl
Innerchr2:111883259..111893062hg19UCSC Ensembl
Innerchr2:111599730..111609533hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg389804
hg199804
hg189804
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963952
Supporting Variants
SamplesHGDP00778
Known GenesBCL2L11
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2758540
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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