A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547976



Internal ID15988699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157204235..157205449hg38UCSC Ensembl
Innerchr1:157174025..157175239hg19UCSC Ensembl
Innerchr1:155440649..155441863hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381215
hg191215
hg181215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n54
Supporting Variantsnssv724990, nssv724977, nssv724967, nssv724973, nssv724961, nssv724974, nssv724979, nssv724989, nssv724987, nssv724994, nssv724986, nssv724992, nssv724968, nssv724954, nssv724966, nssv724958, nssv724963, nssv724991, nssv724982, nssv724955, nssv724959, nssv724969, nssv724971, nssv724988, nssv724975, nssv724984, nssv724970, nssv724957, nssv724980, nssv724956, nssv724965, nssv724972, nssv724983, nssv724985, nssv724960, nssv724978, nssv724993, nssv724962, nssv724964, nssv724995, nssv724981, nssv724976
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547976
Frequency
Sample Size17421
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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