A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1953



Internal ID15546516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4860832..4896746hg38UCSC Ensembl
Outerchr17:4764127..4800041hg19UCSC Ensembl
Outerchr17:4710314..4740817hg18UCSC Ensembl
Outerchr17:4710314..4740817hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387291
hg197291
hg187291
hg177291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6696, nssv2158, nssv10108, nssv1340, nssv4244, nssv5635
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, NA19129
Known GenesMINK1
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)nsv1953
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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