A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998364



Internal ID19157900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72275051..72345453hg38UCSC Ensembl
Innerchr1:72740734..72811136hg19UCSC Ensembl
Innerchr1:72513322..72583724hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3870403
hg1970403
hg1870403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3468148, nssv3478910, nssv3481814, nssv3467638
Samples
Known GenesNEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998364
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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