A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3482757



Internal ID18723712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202604051..202653685hg38UCSC Ensembl
Innerchr1:202573179..202622813hg19UCSC Ensembl
Innerchr1:200839802..200889436hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3849635
hg1949635
hg1849635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999941
Supporting Variants
Samples
Known GenesSYT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3482757
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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