A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999941



Internal ID19159477
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 StatusM
Merged Variantsdgv560n100
Supporting Variantsnssv3482757
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)nsv999941
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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