A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606514



Internal ID16047237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30913170..30915256hg38UCSC Ensembl
Innerchr7:30952785..30954871hg19UCSC Ensembl
Innerchr7:30919310..30921396hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382087
hg192087
hg182087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1081791
Samples
Known GenesAQP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606514
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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