A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960599



Internal ID18249161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40993564..40999841hg38UCSC Ensembl
Innerchr17:39149816..39156093hg19UCSC Ensembl
Innerchr17:36403342..36409619hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386278
hg196278
hg186278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2762236
SamplesHGDP00456
Known GenesKRTAP3-2, KRTAP3-3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960599
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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