A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2862



Internal ID15200739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:104945544..104980488hg38UCSC Ensembl
Outerchr2:105562002..105596946hg19UCSC Ensembl
Outerchr2:104928434..104963378hg18UCSC Ensembl
Outerchr2:105020520..105055464hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg386054
hg196054
hg186054
hg176054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1525
SamplesNA19240
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)nsv2862
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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