A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000257



Internal ID19089474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104760089..104843628hg38UCSC Ensembl
Innerchr1:105302711..105386250hg19UCSC Ensembl
Innerchr1:105104234..105187773hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3883540
hg1983540
hg1883540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv233n100
Supporting Variantsnssv3701135
Samples
Known GenesMIR548H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000257
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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