A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119659



Internal ID18906648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6228794..6228863hg38UCSC Ensembl
Outerchr1:6288854..6288923hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982104
SamplesKWS1
Known GenesICMT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119659
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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