A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1971



Internal ID15199848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9061120..9073814hg38UCSC Ensembl
Outerchr17:8964437..8977131hg19UCSC Ensembl
Outerchr17:8905162..8917856hg18UCSC Ensembl
Outerchr17:8905162..8917856hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3824198
hg1924198
hg1824198
hg1724198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1343, nssv4250
SamplesNA12878, NA19240
Known GenesNTN1
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)nsv1971
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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