A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549123



Internal ID15989846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210681473..210702850hg38UCSC Ensembl
Innerchr1:210854815..210876192hg19UCSC Ensembl
Innerchr1:208921438..208942815hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3821378
hg1921378
hg1821378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174042
SamplesNINDS_21
Known GenesKCNH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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