A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547678



Internal ID16335087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147719707..147903855hg38UCSC Ensembl
Innerchr1:147191841..147375981hg19UCSC Ensembl
Innerchr1:145658465..145842605hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38184149
hg19184141
hg18184141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173142
Samples1780862040_A
Known GenesGJA5, GJA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547678
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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