A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610996



Internal ID16398405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39379809..39385362hg38UCSC Ensembl
Innerchr8:39237328..39242881hg19UCSC Ensembl
Innerchr8:39356485..39362038hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg385554
hg195554
hg185554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12101n54
Supporting Variantsnssv1110484, nssv1110482, nssv1110485, nssv1110483, nssv1110486
Samples
Known GenesADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610996
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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