A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3550109



Internal ID18501704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135838..46666626hg38UCSC Ensembl
Innerchr17:44213204..44743992hg19UCSC Ensembl
Innerchr17:41568981..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38530789
hg19530789
hg18530196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064988
Supporting Variants
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)nssv3550109
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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