A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002244



Internal ID19091461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196772139..196798270hg38UCSC Ensembl
Innerchr1:196741269..196767400hg19UCSC Ensembl
Innerchr1:195007892..195034023hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3826132
hg1926132
hg1826132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv530n100
Supporting Variantsnssv3705414
Samples
Known GenesCFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002244
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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