A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3545123



Internal ID18496718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45508378..45633658hg38UCSC Ensembl
Innerchr17:43585744..43711024hg19UCSC Ensembl
Innerchr17:40941527..41066807hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38125281
hg19125281
hg18125281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059393
Supporting Variants
Samples
Known GenesCRHR1, LOC644172, LRRC37A4P, MGC57346
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3545123
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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