A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122442



Internal ID18914880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201919954..201920025hg38UCSC Ensembl
Outerchr1:201889082..201889153hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970648
SamplesKWS2
Known GenesLMOD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122442
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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