A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055785



Internal ID18798316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46708304hg38UCSC Ensembl
Innerchr17:44208674..44785670hg19UCSC Ensembl
Innerchr17:41564451..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38576997
hg19576997
hg18576401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3718451
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055785
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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