A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121224



Internal ID19269213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181491244..181491559hg38UCSC Ensembl
Outerchr2:182355971..182356286hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2105n106
Supporting Variantsnssv3967143, nssv3965680
SamplesKWS2, KWS1
Known GenesITGA4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121224
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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