A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005644



Internal ID19094861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195851207..195905777hg38UCSC Ensembl
Innerchr1:195820337..195874907hg19UCSC Ensembl
Innerchr1:194086960..194141530hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3854571
hg1954571
hg1854571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv502n100
Supporting Variantsnssv3491236
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)nsv1005644
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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