A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012448



Internal ID19101665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190028927..190087425hg38UCSC Ensembl
Innerchr1:189998057..190056555hg19UCSC Ensembl
Innerchr1:188264680..188323178hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3858499
hg1958499
hg1858499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv494n100
Supporting Variantsnssv3491744, nssv3498439
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012448
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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