A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062882



Internal ID18805413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46202822..46286792hg38UCSC Ensembl
Innerchr17:44280188..44364158hg19UCSC Ensembl
Innerchr17:41635965..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3883971
hg1983971
hg1883971
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3234n100
Supporting Variantsnssv3557473, nssv3725388, nssv3557471, nssv3557472, nssv3557470, nssv3557469
Samples
Known GenesKANSL1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062882
Frequency
Sample Size29084
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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