A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126647



Internal ID19276192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51955884..51956384hg38UCSC Ensembl
Outerchr3:51989900..51990400hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984913
SamplesKWS1
Known GenesGPR62
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126647
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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