A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056774



Internal ID18799305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46674655hg38UCSC Ensembl
Innerchr17:44394400..44752021hg19UCSC Ensembl
Innerchr17:41750175..42107200hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38357622
hg19357622
hg18357026
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3563517, nssv3563520, nssv3563525, nssv3563524, nssv3563516, nssv3563519, nssv3563515, nssv3563523, nssv3563521, nssv3563522, nssv3563518
Samples
Known GenesARL17A, ARL17B, 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)nsv1056774
Frequency
Sample Size29084
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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