A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067482



Internal ID19156701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20834118..20879161hg38UCSC Ensembl
Innerchr17:20737431..20782474hg19UCSC Ensembl
Innerchr17:20678023..20723066hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3845044
hg1945044
hg1845044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3122n100
Supporting Variantsnssv3560921, nssv3560922
Samples
Known GenesCCDC144NL, LOC440416
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067482
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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