A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611004



Internal ID16398413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39380149..39480405hg38UCSC Ensembl
Innerchr8:39237668..39337924hg19UCSC Ensembl
Innerchr8:39356825..39457081hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38100257
hg19100257
hg18100257
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12102n54
Supporting Variantsnssv1110525, nssv1110521, nssv1110536, nssv1110531, nssv1110527, nssv1110530, nssv1110533, nssv1110520, nssv1110524, nssv1110519, nssv1110522, nssv1110518, nssv1110529, nssv1110523, nssv1110535, nssv1110528, nssv1110534, nssv1110532, nssv1110516, nssv1110526, nssv1110517
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611004
Frequency
Sample Size17421
Observed Gain4
Observed Loss17
Observed Complex0
Frequencyn/a


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