A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611049



Internal ID16398458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39416742..39520881hg38UCSC Ensembl
Innerchr8:39274261..39378400hg19UCSC Ensembl
Innerchr8:39393418..39497557hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38104140
hg19104140
hg18104140
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1111189, nssv1111192, nssv1111186, nssv1111196, nssv1111188, nssv1111193, nssv1111195, nssv1111194, nssv1111187, nssv1111190, nssv1111191
Samples
Known GenesADAM3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611049
Frequency
Sample Size17421
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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