A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119482



Internal ID19266967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230436816..230436882hg38UCSC Ensembl
Outerchr2:231301531..231301597hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959925
SamplesKWS1
Known GenesSP100
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119482
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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