A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027344



Internal ID19116563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39426673..39527663hg38UCSC Ensembl
Innerchr8:39284192..39385182hg19UCSC Ensembl
Innerchr8:39403349..39504339hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38100991
hg19100991
hg18100991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7180n100
Supporting Variantsnssv3685936, nssv3685937, nssv3685935, nssv3685934
Samples
Known GenesADAM3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027344
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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