A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547749



Internal ID15988472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143550435..143751464hg38UCSC Ensembl
Innerchr1:149045105..149246114hg19UCSC Ensembl
Innerchr1:147311729..147512738hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38201030
hg19201010
hg18201010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv540n54
Supporting Variantsnssv723335, nssv723327, nssv723328, nssv723312, nssv723317, nssv723318, nssv723321, nssv723325, nssv723333, nssv723332, nssv723322, nssv723320, nssv723330, nssv723326, nssv723311, nssv723334, nssv723323, nssv723319, nssv723324, nssv723315, nssv723314, nssv723331, nssv723316, nssv723329, nssv723313
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547749
Frequency
Sample Size17421
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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