A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007983



Internal ID19097202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178690798..178704939hg38UCSC Ensembl
Innerchr1:178659933..178674074hg19UCSC Ensembl
Innerchr1:176926556..176940697hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3814142
hg1914142
hg1814142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv468n100
Supporting Variantsnssv3490751, nssv3501360, nssv3499801
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007983
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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