A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545607



Internal ID15986330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15683620..15684784hg38UCSC Ensembl
Innerchr1:16010115..16011279hg19UCSC Ensembl
Innerchr1:15882702..15883866hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381165
hg191165
hg181165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv150n54
Supporting Variantsnssv710527, nssv710528
Samples
Known GenesPLEKHM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545607
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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