A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556607



Internal ID15997330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134288851..134340635hg38UCSC Ensembl
Innerchr11:134158745..134210529hg19UCSC Ensembl
Innerchr11:133663955..133715739hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3851785
hg1951785
hg1851785
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2204n54
Supporting Variantsnssv785147, nssv1176214, nssv1176213, nssv1176212
SamplesHGDP00775, HGDP00205, HGDP00230
Known GenesGLB1L2, GLB1L3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556607
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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