A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125265



Internal ID18918679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75558884..75558957hg38UCSC Ensembl
Outerchr17:73554965..73555038hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983436
SamplesKWS1
Known GenesLLGL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125265
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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