A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486320



Internal ID19073961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152554167..152582700hg38UCSC Ensembl
Innerchr1:152526643..152555176hg19UCSC Ensembl
Innerchr1:150793267..150821800hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3828534
hg1928534
hg1828534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999353
Supporting Variants
Samples
Known GenesLCE3D, LCE3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486320
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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