A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3688708



Internal ID18986989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57168237..57245849hg38UCSC Ensembl
Innerchr8:58080796..58158408hg19UCSC Ensembl
Innerchr8:58243350..58320962hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3877613
hg1977613
hg1877613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028917
Supporting Variants
Samples
Known GenesLOC100507651
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3688708
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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