A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606508



Internal ID16393917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30772130..30797387hg38UCSC Ensembl
Innerchr7:30811746..30837003hg19UCSC Ensembl
Innerchr7:30778271..30803528hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3825258
hg1925258
hg1825258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1081785, nssv1154928
SamplesHGDP00254
Known GenesFAM188B, INMT-FAM188B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606508
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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