A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142765



Internal ID18904989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:107140978..107143978hg38UCSC Ensembl
Outerchr1:107683600..107686600hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994268
SamplesKWS1
Known GenesNTNG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142765
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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