A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138502



Internal ID18905103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16163340..16163390hg38UCSC Ensembl
Outerchr17:16066654..16066704hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972073, nssv3954888
SamplesKWS2, KWS1
Known GenesNCOR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138502
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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