A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610997



Internal ID16398406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39379809..39386523hg38UCSC Ensembl
Innerchr8:39237328..39244042hg19UCSC Ensembl
Innerchr8:39356485..39363199hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg386715
hg196715
hg186715
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12100n54
Supporting Variantsnssv1110489, nssv1110491, nssv1110488, nssv1110490, nssv1110487
Samples
Known GenesADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610997
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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