A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057503



Internal ID18800034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46100080..46351303hg38UCSC Ensembl
Innerchr17:44177446..44428669hg19UCSC Ensembl
Innerchr17:41533259..41784425hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38251224
hg19251224
hg18251167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n100
Supporting Variantsnssv3548543
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057503
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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