A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004319



Internal ID19093536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72280838..72343736hg38UCSC Ensembl
Innerchr1:72746521..72809419hg19UCSC Ensembl
Innerchr1:72519109..72582007hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3862899
hg1962899
hg1862899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3468271
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)nsv1004319
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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