A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122



Internal ID15198999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:92343416..92374054hg38UCSC Ensembl
Outerchr13:92995669..93026307hg19UCSC Ensembl
Outerchr13:91793670..91824308hg18UCSC Ensembl
Outerchr13:91793670..91824308hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg389100
hg199100
hg189100
hg179100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4082
SamplesNA12878
Known GenesGPC5
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)nsv1122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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