A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3725174



Internal ID19023455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82569201..82681793hg38UCSC Ensembl
Innerchr17:80527077..80639669hg19UCSC Ensembl
Innerchr17:78120366..78232958hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38112593
hg19112593
hg18112593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067362
Supporting Variants
Samples
Known GenesFOXK2, RAB40B, WDR45B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3725174
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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