A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547662



Internal ID16335071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145753588..145809105hg38UCSC Ensembl
Innerchr1:145625979..145681484hg19UCSC Ensembl
Innerchr1:144337336..144392841hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3855518
hg1955506
hg1855506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723067
Samples
Known GenesLOC100288142, NBPF10, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547662
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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