A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607431



Internal ID16394840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70234088..70363743hg38UCSC Ensembl
Innerchr7:69699074..69828729hg19UCSC Ensembl
Innerchr7:69337010..69466665hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38129656
hg19129656
hg18129656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1085706
Samples
Known GenesAUTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607431
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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