A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000824



Internal ID19090041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17992397..18067022hg38UCSC Ensembl
Innerchr2:18173663..18248288hg19UCSC Ensembl
Innerchr2:18037144..18111769hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3874626
hg1974626
hg1874626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3578973, nssv3578972
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)nsv1000824
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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