A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137742



Internal ID18914277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23783379..23783430hg38UCSC Ensembl
Outerchr1:24109869..24109920hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990249
SamplesKWS2
Known GenesPITHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137742
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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