A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549042



Internal ID15989765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205114992..205193929hg38UCSC Ensembl
Innerchr1:205084120..205163057hg19UCSC Ensembl
Innerchr1:203350743..203429680hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3878938
hg1978938
hg1878938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174038
SamplesNINDS_159
Known GenesDSTYK, RBBP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549042
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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