A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7337



Internal ID15205650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240643067..240731727hg38UCSC Ensembl
Outerchr2:241582484..241671144hg19UCSC Ensembl
Outerchr2:241231157..241319817hg18UCSC Ensembl
Outerchr2:241302474..241391134hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3888661
hg1988661
hg1888661
hg1788661
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10278, nssv1581, nssv9592, nssv2320, nssv4515, nssv6916, nssv2321
SamplesNA18507, NA12156, NA12878, NA18956, NA18555, NA19240
Known GenesAQP12A, AQP12B, 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)nsv7337
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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