A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002341



Internal ID18744873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15839166..15907552hg38UCSC Ensembl
Innerchr1:16165661..16234047hg19UCSC Ensembl
Innerchr1:16038248..16106634hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3868387
hg1968387
hg1868387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv37n100
Supporting Variantsnssv3481357
Samples
Known GenesFLJ37453, SPEN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002341
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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