A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000988



Internal ID18743519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62596120..62641855hg38UCSC Ensembl
Innerchr1:63061791..63107526hg19UCSC Ensembl
Innerchr1:62834379..62880114hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3845736
hg1945736
hg1845736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3464932
Samples
Known GenesANGPTL3, DOCK7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000988
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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