A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061701



Internal ID19150920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46274563hg38UCSC Ensembl
Innerchr17:44208144..44351929hg19UCSC Ensembl
Innerchr17:41563921..41707706hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38143786
hg19143786
hg18143786
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3549904, nssv3720928, nssv3720927
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)nsv1061701
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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