A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007735



Internal ID19096954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143878968hg38UCSC Ensembl
Innerchr1:149036512..149373529hg19UCSC Ensembl
Innerchr1:147303136..147640153hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38337124
hg19337018
hg18337018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379n100
Supporting Variantsnssv3704002, nssv3489114, nssv3499165, nssv3494893, nssv3704000, nssv3704001
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)nsv1007735
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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