A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464689



Internal ID15178068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111948461..113100780hg38UCSC Ensembl
Innerchr7:111588516..112740835hg19UCSC Ensembl
Innerchr7:111375752..112528071hg18UCSC Ensembl
Innerchr7:111182467..112334786hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381152320
hg191152320
hg181152320
hg171152320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540562
SamplesNINDS_40
Known GenesC7orf60, DOCK4, GPR85, IFRD1, LSMEM1, TMEM168, ZNF277
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv464689
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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