A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549769



Internal ID18501364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46113306..46674922hg38UCSC Ensembl
Innerchr17:44190672..44752288hg19UCSC Ensembl
Innerchr17:41546454..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38561617
hg19561617
hg18561014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063203
Supporting Variants
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)nssv3549769
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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