A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10239



Internal ID15542559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134196461..134204569hg38UCSC Ensembl
Outerchr2:134954032..134962140hg19UCSC Ensembl
Outerchr2:134670502..134678610hg18UCSC Ensembl
Outerchr2:134787764..134795872hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg388109
hg198109
hg188109
hg178109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2938
Supporting Variants
SamplesNA18956
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)nssv10239
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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