A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056492



Internal ID18799023
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 StatusM
Merged Variantsdgv3274n100
Supporting Variantsnssv3567728, nssv3725141
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)nsv1056492
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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