A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549110



Internal ID16336519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210550581hg38UCSC Ensembl
Innerchr1:210722554..210723925hg19UCSC Ensembl
Innerchr1:208789177..208790548hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381372
hg191372
hg181372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv799n54
Supporting Variantsnssv736771, nssv736769, nssv736770
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549110
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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