A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131470



Internal ID18921991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65263278..65263329hg38UCSC Ensembl
Outerchr2:65490412..65490463hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985864
SamplesKWS1
Known GenesACTR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131470
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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