A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003120



Internal ID19092337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143574580..143893007hg38UCSC Ensembl
Innerchr1:149069242..149387581hg19UCSC Ensembl
Innerchr1:147335866..147654205hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38318428
hg19318340
hg18318340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379n100
Supporting Variantsnssv3488099
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)nsv1003120
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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