A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6704



Internal ID15537159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18353006..18366176hg38UCSC Ensembl
Outerchr17:18256320..18269490hg19UCSC Ensembl
Outerchr17:18197045..18210215hg18UCSC Ensembl
Outerchr17:18197045..18210215hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388896
hg198896
hg188896
hg178896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1998
Supporting Variants
SamplesNA12156
Known GenesSHMT1
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)nssv6704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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