A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591145



Internal ID16378554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99909978..99910601hg38UCSC Ensembl
Innerchr3:99628822..99629445hg19UCSC Ensembl
Innerchr3:101111512..101112135hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38624
hg19624
hg18624
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8475n54
Supporting Variantsnssv970390, nssv970383, nssv970380, nssv970379, nssv970388, nssv970376, nssv970385, nssv970392, nssv970375, nssv970381, nssv970384, nssv970382, nssv970377, nssv970389, nssv970378, nssv970387, nssv970386, nssv970391
Samples
Known GenesCMSS1, FILIP1L, MIR548G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591145
Frequency
Sample Size17421
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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