A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057078



Internal ID19146297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46068223..46218456hg38UCSC Ensembl
Innerchr17:44145589..44295822hg19UCSC Ensembl
Innerchr17:41501411..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38150234
hg19150234
hg18150189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3180n100
Supporting Variantsnssv3545133
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057078
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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