A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999709



Internal ID19159245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196820420..196832513hg38UCSC Ensembl
Innerchr1:196789550..196801643hg19UCSC Ensembl
Innerchr1:195056173..195068266hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3812094
hg1912094
hg1812094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv548n100
Supporting Variantsnssv3491159, nssv3494858
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999709
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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