A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2128



Internal ID15194725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1238068..1286382hg38UCSC Ensembl
Outerchr16:1288069..1336383hg19UCSC Ensembl
Outerchr16:1228070..1276384hg18UCSC Ensembl
Outerchr16:1228070..1276384hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3848315
hg1948315
hg1848315
hg1748315
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7274
Supporting Variants
SamplesNA18555
Known GenesTPSAB1, TPSD1
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)nssv2128
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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