A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608946



Internal ID16396355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314455..147315310hg38UCSC Ensembl
Innerchr7:147011547..147012402hg19UCSC Ensembl
Innerchr7:146642480..146643335hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38856
hg19856
hg18856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11705n54
Supporting Variantsnssv1097961, nssv1097970, nssv1097959, nssv1097963, nssv1097969, nssv1097966, nssv1097967, nssv1097964, nssv1097968, nssv1097960, nssv1097962, nssv1097965
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608946
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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