A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000698



Internal ID19089915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180030534..180073386hg38UCSC Ensembl
Innerchr1:179999669..180042521hg19UCSC Ensembl
Innerchr1:178266292..178309144hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3842853
hg1942853
hg1842853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500795
Samples
Known GenesCEP350
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000698
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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