A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605819



Internal ID16046542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1512080..1550644hg38UCSC Ensembl
Innerchr7:1551716..1590280hg19UCSC Ensembl
Innerchr7:1518242..1556806hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3838565
hg1938565
hg1838565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1078358
Samples
Known GenesMAFK, TMEM184A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605819
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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