A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066643



Internal ID18809174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46628597hg38UCSC Ensembl
Innerchr17:44394400..44705963hg19UCSC Ensembl
Innerchr17:41750175..42061279hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38311564
hg19311564
hg18311105
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3725579, nssv3725580, nssv3565961, nssv3565958, nssv3565962, nssv3565955, nssv3565963, nssv3565967, nssv3565966, nssv3565957, nssv3565954, nssv3565956, nssv3565964, nssv3565965, nssv3565960, nssv3565968, nssv3565959
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)nsv1066643
Frequency
Sample Size29084
Observed Gain1
Observed Loss16
Observed Complex0
Frequencyn/a


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