A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1082480



Internal ID15935666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550705..31554552hg38UCSC Ensembl
Innerchr7:31590319..31594166hg19UCSC Ensembl
Innerchr7:31556844..31560691hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg383848
hg193848
hg183848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606560
Supporting Variants
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1082480
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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