A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066312



Internal ID18808843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75260266..75323694hg38UCSC Ensembl
Innerchr17:73256347..73319775hg19UCSC Ensembl
Innerchr17:70767942..70831370hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3863429
hg1963429
hg1863429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567806
Samples
Known GenesGGA3, GRB2, LOC100287042, MIF4GD, MRPS7, SLC25A19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066312
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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