A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7329



Internal ID15205641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:136908185..139235533hg38UCSC Ensembl
Outerchr2:137665755..139993103hg19UCSC Ensembl
Outerchr2:137382225..139709573hg18UCSC Ensembl
Outerchr2:137499487..139826835hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg382327349
hg192327349
hg182327349
hg172327349
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6874
SamplesNA12156
Known GenesHNMT, NXPH2, SPOPL, THSD7B, YY1P2
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)nsv7329
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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