A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549155



Internal ID16336564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212828746..212836315hg38UCSC Ensembl
Innerchr1:213002088..213009657hg19UCSC Ensembl
Innerchr1:211068711..211076280hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387570
hg197570
hg187570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv809n54
Supporting Variantsnssv736873, nssv736874, nssv736871, nssv736872, nssv736870
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549155
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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