A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3545121



Internal ID18496716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44728495..44770726hg38UCSC Ensembl
Innerchr17:42805863..42848094hg19UCSC Ensembl
Innerchr17:40161389..40203620hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3842232
hg1942232
hg1842232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067206
Supporting Variants
Samples
Known GenesADAM11, DBF4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3545121
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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