A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608257



Internal ID16395666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117589113..117601340hg38UCSC Ensembl
Innerchr7:117229167..117241394hg19UCSC Ensembl
Innerchr7:117016403..117028630hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3812228
hg1912228
hg1812228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092826
Samples
Known GenesCFTR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608257
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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