A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056798



Internal ID18799329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46640527hg38UCSC Ensembl
Innerchr17:44394400..44717893hg19UCSC Ensembl
Innerchr17:41750175..42073209hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38323494
hg19323494
hg18323035
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3725581, nssv3565994, nssv3565993, nssv3565970, nssv3565974, nssv3565992, nssv3565985, nssv3565980, nssv3565986, nssv3725583, nssv3565975, nssv3565979, nssv3565973, nssv3565988, nssv3725587, nssv3565987, nssv3565981, nssv3725582, nssv3565984, nssv3565971, nssv3565991, nssv3725584, nssv3565983, nssv3725585, nssv3565976, nssv3565989, nssv3565982, nssv3565969, nssv3725586, nssv3565977, nssv3565990, nssv3565978, nssv3565972
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)nsv1056798
Frequency
Sample Size29084
Observed Gain4
Observed Loss29
Observed Complex0
Frequencyn/a


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