A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548168



Internal ID16335577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169262975..169270354hg38UCSC Ensembl
Innerchr1:169232213..169239592hg19UCSC Ensembl
Innerchr1:167498837..167506216hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg387380
hg197380
hg187380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv628n54
Supporting Variantsnssv728699, nssv728700
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548168
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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