A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001302



Internal ID19090519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75345..246301hg38UCSC Ensembl
Innerchr2:75345..246301hg19UCSC Ensembl
Innerchr2:65345..236301hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38170957
hg19170957
hg18170957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3694n100
Supporting Variantsnssv3571250, nssv3571249
Samples
Known GenesSH3YL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001302
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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