A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061150



Internal ID18803681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46113306..46666626hg38UCSC Ensembl
Innerchr17:44190672..44743992hg19UCSC Ensembl
Innerchr17:41546454..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38553321
hg19553321
hg18552723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3198n100
Supporting Variantsnssv3720616, nssv3549768
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)nsv1061150
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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