A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130980



Internal ID18938618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:183023065..183023965hg38UCSC Ensembl
Outerchr1:182992200..182993100hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv231n106
Supporting Variantsnssv3967684
SamplesKWS2
Known GenesLAMC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130980
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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