A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608226



Internal ID16048949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111948461..113100780hg38UCSC Ensembl
Innerchr7:111588516..112740835hg19UCSC Ensembl
Innerchr7:111375752..112528071hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381152320
hg191152320
hg181152320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155384
SamplesNINDS_40
Known GenesC7orf60, DOCK4, GPR85, IFRD1, LSMEM1, TMEM168, ZNF277
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608226
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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