A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547753



Internal ID16335162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143550435..143905676hg38UCSC Ensembl
Innerchr1:149045105..149400252hg19UCSC Ensembl
Innerchr1:147311729..147666876hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38355242
hg19355148
hg18355148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv545n54
Supporting Variantsnssv723347, nssv723346
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547753
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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