A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136081



Internal ID19279592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41240528..41242528hg38UCSC Ensembl
Outerchr1:41706200..41708200hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989687
SamplesKWS2
Known GenesSCMH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136081
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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