A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1581



Internal ID15198807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240685536..240729078hg38UCSC Ensembl
Outerchr2:241624953..241668495hg19UCSC Ensembl
Outerchr2:241273626..241317168hg18UCSC Ensembl
Outerchr2:241344943..241388485hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3843543
hg1943543
hg1843543
hg1743543
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7337
Supporting Variants
SamplesNA19240
Known GenesAQP12A, KIF1A
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)nssv1581
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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