A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999475



Internal ID19159012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21709367..21762348hg38UCSC Ensembl
Innerchr1:22035860..22088841hg19UCSC Ensembl
Innerchr1:21908447..21961428hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3852982
hg1952982
hg1852982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3480239
Samples
Known GenesUSP48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999475
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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