A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486352



Internal ID19073993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247589524..247635208hg38UCSC Ensembl
Innerchr1:247752826..247798510hg19UCSC Ensembl
Innerchr1:245819449..245865133hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3845685
hg1945685
hg1845685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003572
Supporting Variants
Samples
Known GenesOR2G3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486352
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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