A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056246



Internal ID19145465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137986..46273919hg38UCSC Ensembl
Innerchr17:44215352..44351285hg19UCSC Ensembl
Innerchr17:41571129..41707062hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38135934
hg19135934
hg18135934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3208n100
Supporting Variantsnssv3724059
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)nsv1056246
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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