A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3491540



Internal ID18732495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191608173..192172695hg38UCSC Ensembl
Innerchr1:191577303..192141825hg19UCSC Ensembl
Innerchr1:189843926..190408448hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38564523
hg19564523
hg18564523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007060
Supporting Variants
Samples
Known GenesRGS18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3491540
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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