A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3034



Internal ID15547603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172295567..172335385hg38UCSC Ensembl
Outerchr2:173160295..173200113hg19UCSC Ensembl
Outerchr2:172868541..172908359hg18UCSC Ensembl
Outerchr2:172985802..173025620hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3839819
hg1939819
hg1839819
hg1739819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1550, nssv6886, nssv4478
SamplesNA12156, NA12878, NA19240
Known Genes
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)nsv3034
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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