A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548175



Internal ID16335584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169263603..169271737hg38UCSC Ensembl
Innerchr1:169232841..169240975hg19UCSC Ensembl
Innerchr1:167499465..167507599hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg388135
hg198135
hg188135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv628n54
Supporting Variantsnssv728726, nssv728717, nssv728724, nssv728727, nssv728719, nssv728723, nssv728729, nssv728730, nssv728728, nssv728725, nssv728720, nssv728718, nssv728721, nssv728722
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548175
Frequency
Sample Size17421
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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