A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055383



Internal ID19144602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41053891..41080200hg38UCSC Ensembl
Innerchr17:39210143..39236452hg19UCSC Ensembl
Innerchr17:36463669..36489978hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3826310
hg1926310
hg1826310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3562553
Samples
Known GenesKRTAP2-2, KRTAP2-3, KRTAP2-4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055383
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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