A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10569



Internal ID15195543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100999885..101000803hg38UCSC Ensembl
Outerchr7:100643166..100644084hg19UCSC Ensembl
Outerchr7:100429886..100430804hg18UCSC Ensembl
Outerchr7:100236601..100237519hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388662
hg198662
hg188662
hg178662
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872
Supporting Variants
SamplesNA18956
Known GenesMUC12
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)nssv10569
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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