A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546578



Internal ID16333987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74667458..74700939hg38UCSC Ensembl
Innerchr1:75133142..75166623hg19UCSC Ensembl
Innerchr1:74905730..74939211hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3833482
hg1933482
hg1833482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173022
Samples1780862074_A
Known GenesC1orf173
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546578
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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