A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008967



Internal ID18751498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115671658..115699702hg38UCSC Ensembl
Innerchr1:116214279..116242323hg19UCSC Ensembl
Innerchr1:116015802..116043846hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3828045
hg1928045
hg1828045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv293n100
Supporting Variantsnssv3491479, nssv3485764
Samples
Known GenesVANGL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008967
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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