A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547747



Internal ID15988470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143550435..143735154hg38UCSC Ensembl
Innerchr1:149045105..149229805hg19UCSC Ensembl
Innerchr1:147311729..147496429hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38184720
hg19184701
hg18184701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv540n54
Supporting Variantsnssv723304, nssv723309, nssv723300, nssv723307, nssv723305, nssv723303, nssv723308, nssv723306, nssv723302, nssv723301
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547747
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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