A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136424



Internal ID19258790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:141997390..141997452hg38UCSC Ensembl
Outerchr2:142754959..142755021hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991450, nssv3956336
SamplesKWS2, KWS1
Known GenesLRP1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136424
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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