A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997271



Internal ID19156809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72280838..72340113hg38UCSC Ensembl
Innerchr1:72746521..72805796hg19UCSC Ensembl
Innerchr1:72519109..72578384hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3859276
hg1959276
hg1859276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3463511
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)nsv997271
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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