A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006568



Internal ID18749099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165787737..165879453hg38UCSC Ensembl
Innerchr3:165505525..165597241hg19UCSC Ensembl
Innerchr3:166988219..167079935hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3891717
hg1991717
hg1891717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4977n100
Supporting Variantsnssv3612679
Samples
Known GenesBCHE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006568
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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