A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004529



Internal ID18747060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24363242..25005468hg38UCSC Ensembl
Innerchr2:24586111..25228337hg19UCSC Ensembl
Innerchr2:24439615..25081841hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38642227
hg19642227
hg18642227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579020
Samples
Known GenesADCY3, CENPO, DNAJC27, DNAJC27-AS1, NCOA1, PTRHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004529
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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