A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006949



Internal ID19096167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196779334..196801995hg38UCSC Ensembl
Innerchr1:196748464..196771125hg19UCSC Ensembl
Innerchr1:195015087..195037748hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3822662
hg1922662
hg1822662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv533n100
Supporting Variantsnssv3492396, nssv3492976
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)nsv1006949
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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