A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5593



Internal ID15197168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21553708..22689996hg38UCSC Ensembl
Outerchr16:21565029..22701317hg19UCSC Ensembl
Outerchr16:21472530..22608818hg18UCSC Ensembl
Outerchr16:21472530..22608818hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381136289
hg191136289
hg181136289
hg171136289
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7280
Supporting Variants
SamplesNA19129
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC100190986, LOC653786, METTL9, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
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)nssv5593
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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