A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555405



Internal ID15996128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:72233623..72241301hg38UCSC Ensembl
Innerchr11:71944667..71952345hg19UCSC Ensembl
Innerchr11:71622315..71629993hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg387679
hg197679
hg187679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv778989
Samples
Known GenesINPPL1, PHOX2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555405
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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