A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1381



Internal ID15544332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58112975..58147399hg38UCSC Ensembl
Outerchr17:56190336..56224760hg19UCSC Ensembl
Outerchr17:53545335..53579759hg18UCSC Ensembl
Outerchr17:53545335..53579759hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386568
hg196568
hg186568
hg176568
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2108
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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