A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607432



Internal ID16394841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70606934..70635361hg38UCSC Ensembl
Innerchr7:70071920..70100347hg19UCSC Ensembl
Innerchr7:69709856..69738283hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3828428
hg1928428
hg1828428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155174
SamplesHGDP00971
Known GenesAUTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607432
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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