A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608592



Internal ID16396001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142314978..142796623hg38UCSC Ensembl
Innerchr7:141661297..142204435hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38481646
hg18543139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11644n54
Supporting Variantsnssv1155881
SamplesHGDP00703
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)nsv608592
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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