A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061180



Internal ID18803711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46202822..46619139hg38UCSC Ensembl
Innerchr17:44280188..44696505hg19UCSC Ensembl
Innerchr17:41635965..42051821hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38416318
hg19416318
hg18415857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3233n100
Supporting Variantsnssv3557486
Samples
Known GenesARL17A, ARL17B, KANSL1, 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)nsv1061180
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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