A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998437



Internal ID19157973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241031363..241051961hg38UCSC Ensembl
Innerchr1:241194663..241215261hg19UCSC Ensembl
Innerchr1:239261286..239281884hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3820599
hg1920599
hg1820599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705547, nssv3490816, nssv3500606, nssv3499560
Samples
Known GenesRGS7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998437
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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