A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1185



Internal ID15199062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111095621..111127624hg38UCSC Ensembl
Outerchr13:111747968..111779971hg19UCSC Ensembl
Outerchr13:110545969..110577972hg18UCSC Ensembl
Outerchr13:110545969..110577972hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3832004
hg1932004
hg1832004
hg1732004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9165
SamplesNA12156
Known GenesARHGEF7
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)nsv1185
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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