A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057864



Internal ID19147083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46358076..46708304hg38UCSC Ensembl
Innerchr17:44435442..44785670hg19UCSC Ensembl
Innerchr17:41791184..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38350229
hg19350229
hg18349668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3251n100
Supporting Variantsnssv3568501, nssv3568502
Samples
Known GenesARL17A, ARL17B, 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)nsv1057864
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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