A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126466



Internal ID18925082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:61399239..61400839hg38UCSC Ensembl
Outerchr17:59476600..59478200hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984716
SamplesKWS1
Known GenesTBX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126466
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer