A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057123



Internal ID18799654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64618099..64978067hg38UCSC Ensembl
Innerchr17:62614217..62974185hg19UCSC Ensembl
Innerchr17:60044679..60404647hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38359969
hg19359969
hg18359969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3274n100
Supporting Variantsnssv3567727
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)nsv1057123
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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