A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9748



Internal ID15193149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248525692..248560733hg38UCSC Ensembl
Outerchr1:248688993..248724034hg19UCSC Ensembl
Outerchr1:246755616..246790657hg18UCSC Ensembl
Outerchr1:245015034..245050075hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3835042
hg1935042
hg1835042
hg1735042
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7193
Supporting Variants
SamplesNA18507
Known GenesOR2T29
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)nssv9748
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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