A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3029



Internal ID15194260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:135823126..135836756hg38UCSC Ensembl
Outerchr2:136580696..136594326hg19UCSC Ensembl
Outerchr2:136297166..136310796hg18UCSC Ensembl
Outerchr2:136414428..136428058hg17UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg386181
hg196181
hg186181
hg176181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2942
Supporting Variants
SamplesNA18555
Known GenesLCT
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)nssv3029
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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