A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024969



Internal ID19114187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39356415..39573619hg38UCSC Ensembl
Innerchr8:39213934..39431138hg19UCSC Ensembl
Innerchr8:39333091..39550295hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38217205
hg19217205
hg18217205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685605
Samples
Known GenesADAM3A, ADAM5, LOC100130964
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024969
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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