A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016104



Internal ID18758639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2486412..3016819hg38UCSC Ensembl
Innerchr8:2343518..2874341hg19UCSC Ensembl
Innerchr8:2330925..2861748hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38530408
hg19530824
hg18530824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6827n100
Supporting Variantsnssv3675288
Samples
Known GenesCSMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016104
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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