A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064248



Internal ID19153467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46234092..46576019hg38UCSC Ensembl
Innerchr17:44311458..44653385hg19UCSC Ensembl
Innerchr17:41667235..42008701hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38341928
hg19341928
hg18341467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3241n100
Supporting Variantsnssv3550222
Samples
Known GenesARL17A, ARL17B, LOC644172, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064248
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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