A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126201



Internal ID18931833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108595178..108595678hg38UCSC Ensembl
Outerchr1:109137800..109138300hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984431
SamplesKWS1
Known GenesFAM102B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126201
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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