A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547677



Internal ID15988400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147719707..147837308hg38UCSC Ensembl
Innerchr1:147191841..147309443hg19UCSC Ensembl
Innerchr1:145658465..145776067hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38117602
hg19117603
hg18117603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173141
Samples1780854090_A
Known GenesGJA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547677
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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