A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3488051



Internal ID18729006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143893007hg38UCSC Ensembl
Innerchr1:149036512..149387581hg19UCSC Ensembl
Innerchr1:147303136..147654205hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38351163
hg19351070
hg18351070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014445
Supporting Variants
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)nssv3488051
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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