A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971



Internal ID15204148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140427529..140458887hg38UCSC Ensembl
Outerchr7:140127329..140158687hg19UCSC Ensembl
Outerchr7:139773798..139805156hg18UCSC Ensembl
Outerchr7:139580513..139611871hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg388496
hg198496
hg188496
hg178496
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11162
SamplesNA15510
Known GenesMKRN1
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)nsv5971
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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