A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1241



Internal ID15197800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2567689..2605132hg38UCSC Ensembl
Outerchr1:2499128..2536571hg19UCSC Ensembl
Outerchr1:2478655..2526431hg18UCSC Ensembl
Outerchr1:2520957..2568733hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3837444
hg1937444
hg1847777
hg1747777
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7171
Supporting Variants
SamplesNA19240
Known GenesFAM213B, LOC100133445, MMEL1, TNFRSF14
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)nssv1241
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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