A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549111



Internal ID16336520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210550669hg38UCSC Ensembl
Innerchr1:210722554..210724013hg19UCSC Ensembl
Innerchr1:208789177..208790636hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381460
hg191460
hg181460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv799n54
Supporting Variantsnssv736775, nssv736776, nssv736779, nssv736772, nssv736773, nssv736774, nssv736777, nssv736778
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549111
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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