A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126236



Internal ID19280411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21418010..21419511hg38UCSC Ensembl
Outerchr17:21321322..21322823hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1436n106
Supporting Variantsnssv3984469
SamplesKWS1
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126236
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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