A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611031



Internal ID16398440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39393511..39520881hg38UCSC Ensembl
Innerchr8:39251030..39378400hg19UCSC Ensembl
Innerchr8:39370187..39497557hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38127371
hg19127371
hg18127371
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12094n54
Supporting Variantsnssv1111130, nssv1111139, nssv1111136, nssv1111142, nssv1111137, nssv1111125, nssv1111135, nssv1111133, nssv1111143, nssv1111128, nssv1111140, nssv1111138, nssv1111131, nssv1111124, nssv1111126, nssv1111141, nssv1111132, nssv1111134, nssv1111129, nssv1111127
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611031
Frequency
Sample Size17421
Observed Gain4
Observed Loss16
Observed Complex0
Frequencyn/a


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