A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595749



Internal ID16036472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:153423605..154000099hg38UCSC Ensembl
Innerchr4:154344757..154921251hg19UCSC Ensembl
Innerchr4:154564207..155140701hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38576495
hg19576495
hg18576495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1009629
Samples
Known GenesKIAA0922, RNF175, SFRP2, TLR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595749
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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