A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058978



Internal ID18801509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46628597hg38UCSC Ensembl
Innerchr17:44214888..44705963hg19UCSC Ensembl
Innerchr17:41570665..42061279hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38491076
hg19491076
hg18490615
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3556572, nssv3724020, nssv3724022, nssv3724021, nssv3724019, nssv3724023, nssv3556571, nssv3556570
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)nsv1058978
Frequency
Sample Size29084
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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