A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008073



Internal ID18750604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143567307..144572337hg38UCSC Ensembl
Innerchr1:149061968..149521828hg19UCSC Ensembl
Innerchr1:147328592..147788452hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381005031
hg19459861
hg18459861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv383n100
Supporting Variantsnssv3704174
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008073
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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