A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4244



Internal ID15538971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4877328..4885260hg38UCSC Ensembl
Outerchr17:4780623..4788555hg19UCSC Ensembl
Outerchr17:4726800..4729338hg18UCSC Ensembl
Outerchr17:4726800..4729338hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg385625
hg195625
hg185625
hg175625
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1953
Supporting Variants
SamplesNA12878
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)nssv4244
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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