A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005359



Internal ID18747890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178848551..178898098hg38UCSC Ensembl
Innerchr1:178817686..178867233hg19UCSC Ensembl
Innerchr1:177084309..177133856hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3849548
hg1949548
hg1849548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485799, nssv3494438
Samples
Known GenesANGPTL1, RALGPS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005359
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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