A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007506



Internal ID18750037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197554467..197601344hg38UCSC Ensembl
Innerchr3:197281338..197328215hg19UCSC Ensembl
Innerchr3:198765735..198812612hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3846878
hg1946878
hg1846878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3617017
Samples
Known GenesBDH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007506
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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