A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547713



Internal ID15988436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143735154hg38UCSC Ensembl
Innerchr1:149039120..149229805hg19UCSC Ensembl
Innerchr1:147305744..147496429hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38190702
hg19190686
hg18190686
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv541n54
Supporting Variantsnssv723202, nssv723210, nssv723207, nssv723206, nssv723211, nssv723205, nssv723209, nssv723203, nssv723204, nssv723201, nssv723208, nssv723200
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547713
Frequency
Sample Size17421
Observed Gain1
Observed Loss11
Observed Complex0
Frequencyn/a


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