A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005089



Internal ID19094306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:185983937..186088597hg38UCSC Ensembl
Innerchr2:186848664..186953324hg19UCSC Ensembl
Innerchr2:186556909..186661569hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38104661
hg19104661
hg18104661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4131n100
Supporting Variantsnssv3729301
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005089
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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