A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145334



Internal ID19280493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36371403..36371471hg38UCSC Ensembl
Outerchr1:36837004..36837072hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982435
SamplesKWS1
Known GenesSTK40
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145334
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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