A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3024



Internal ID15547592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169247322..169271354hg38UCSC Ensembl
Outerchr2:170103832..170127864hg19UCSC Ensembl
Outerchr2:169812078..169836110hg18UCSC Ensembl
Outerchr2:169929339..169953371hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3824033
hg1924033
hg1824033
hg1724033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4477
SamplesNA12878
Known GenesLRP2
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3024
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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