A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3721074



Internal ID18672669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46628597hg38UCSC Ensembl
Innerchr17:44208674..44705963hg19UCSC Ensembl
Innerchr17:41564451..42061279hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38497290
hg19497290
hg18496829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056308
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)nssv3721074
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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