A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819534



Internal ID15584235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132222876..132289476hg38UCSC Ensembl
Outerchr2:132980449..133047049hg19UCSC Ensembl
Outerchr2:132696919..132763519hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3866601
hg1966601
hg1866601
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418911
SamplesAK1
Known GenesANKRD30BL, MIR663B
MethodSequencing
AnalysisInsertions in AK1 genome were identified by BAC end sequencing and confirmed by whole genome GA sequencing.
PlatformGPL10329
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819534
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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