A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614547



Internal ID16401956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68838527..69089911hg38UCSC Ensembl
Innerchr9:71453443..71704827hg19UCSC Ensembl
Innerchr9:70643263..70894647hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38251385
hg19251385
hg18251385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176360
SamplesNINDS_214
Known GenesFXN, PIP5K1B, PRKACG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614547
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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