A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005438



Internal ID19094655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12432821..12451569hg38UCSC Ensembl
Innerchr2:12572947..12591695hg19UCSC Ensembl
Innerchr2:12490398..12509146hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3818749
hg1918749
hg1818749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726746, nssv3576968, nssv3576969
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)nsv1005438
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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