A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002038



Internal ID18744569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1569349..1741152hg38UCSC Ensembl
Innerchr1:1504729..1672591hg19UCSC Ensembl
Innerchr1:1494592..1662451hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38171804
hg19167863
hg18167860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n100
Supporting Variantsnssv3463307, nssv3696756, nssv3479970, nssv3471994
Samples
Known GenesC1orf233, CDK11A, CDK11B, MIB2, MMP23A, MMP23B, SLC35E2, SLC35E2B, SSU72
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002038
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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