A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060402



Internal ID18802933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46186703..46286792hg38UCSC Ensembl
Innerchr17:44264069..44364158hg19UCSC Ensembl
Innerchr17:41619846..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38100090
hg19100090
hg18100090
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3234n100
Supporting Variantsnssv3557374, nssv3557372, nssv3557373, nssv3725350, nssv3725349
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060402
Frequency
Sample Size29084
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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