A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136063



Internal ID18935971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:4654140..4657840hg38UCSC Ensembl
Outerchr1:4714200..4717900hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989669
SamplesKWS2
Known GenesAJAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136063
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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