A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583754



Internal ID16024477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178655195..178660610hg38UCSC Ensembl
Innerchr2:179519922..179525337hg19UCSC Ensembl
Innerchr2:179228167..179233582hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg385416
hg195416
hg185416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv927208, nssv927207
Samples
Known GenesMIR548N, TTN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583754
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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