A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606894



Internal ID16394303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48624041..48679002hg38UCSC Ensembl
Innerchr7:48663637..48718598hg19UCSC Ensembl
Innerchr7:48634183..48689144hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3854962
hg1954962
hg1854962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083835
Samples
Known GenesABCA13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606894
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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