A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999490



Internal ID19159027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104562716..104630473hg38UCSC Ensembl
Innerchr1:105105338..105173095hg19UCSC Ensembl
Innerchr1:104906861..104974618hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3867758
hg1967758
hg1867758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv232n100
Supporting Variantsnssv3489112, nssv3487349
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)nsv999490
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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