A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608628



Internal ID16049351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142642726..142780878hg38UCSC Ensembl
Innerchr7:142350234..142488688hg19UCSC Ensembl
Innerchr7:142031222..142188690hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38138153
hg19138455
hg18157469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11652n54
Supporting Variantsnssv1155913
SamplesHGDP01287
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608628
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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