A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3560940



Internal ID18859221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21414447..21641965hg38UCSC Ensembl
Innerchr17:21317759..21545210hg19UCSC Ensembl
Innerchr17:21258352..21485803hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38227519
hg19227452
hg18227452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060167
Supporting Variants
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3560940
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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