A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606892



Internal ID16394301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:47863543..47890582hg38UCSC Ensembl
Innerchr7:47903141..47930180hg19UCSC Ensembl
Innerchr7:47869666..47896705hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3827040
hg1927040
hg1827040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083834
Samples
Known GenesPKD1L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606892
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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