A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3743



Internal ID15538471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:114643415..114666887hg38UCSC Ensembl
Outerchr9:117405695..117429167hg19UCSC Ensembl
Outerchr9:116445516..116468988hg18UCSC Ensembl
Outerchr9:114485249..114508721hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg386554
hg196554
hg186554
hg176554
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6679
Supporting Variants
SamplesNA12878
Known GenesC9orf91, LOC100505478
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)nssv3743
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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