A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008175



Internal ID19097394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183866545..183930098hg38UCSC Ensembl
Innerchr2:184731272..184794825hg19UCSC Ensembl
Innerchr2:184439517..184503070hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3863554
hg1963554
hg1863554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583141
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)nsv1008175
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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