A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608465



Internal ID16049188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137203863..137250712hg38UCSC Ensembl
Innerchr7:136888610..136935459hg19UCSC Ensembl
Innerchr7:136539150..136585999hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3846850
hg1946850
hg1846850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11620n54
Supporting Variantsnssv1094789
Samples
Known GenesPTN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608465
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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