A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3725141



Internal ID18676736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64625563..64978067hg38UCSC Ensembl
Innerchr17:62621681..62974185hg19UCSC Ensembl
Innerchr17:60052143..60404647hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38352505
hg19352505
hg18352505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056492
Supporting Variants
Samples
Known GenesAMZ2P1, LOC146880, LRRC37A3, MIR4315-1, MIR4315-2, MIR6080, PLEKHM1P, SMURF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3725141
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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