A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549114



Internal ID16336523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210551373hg38UCSC Ensembl
Innerchr1:210722554..210724717hg19UCSC Ensembl
Innerchr1:208789177..208791340hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382164
hg192164
hg182164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv800n54
Supporting Variantsnssv736783, nssv736785, nssv736786, nssv736784
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549114
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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