A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065988



Internal ID19155207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46274563hg38UCSC Ensembl
Innerchr17:44208674..44351929hg19UCSC Ensembl
Innerchr17:41564451..41707706hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38143256
hg19143256
hg18143256
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3549965, nssv3720998, nssv3720997
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)nsv1065988
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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