A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5864



Internal ID15204030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99411680..99443573hg38UCSC Ensembl
Outerchr7:99009303..99041196hg19UCSC Ensembl
Outerchr7:98847239..98879132hg18UCSC Ensembl
Outerchr7:98653954..98685847hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg387544
hg197544
hg187544
hg177544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6152
SamplesNA12156
Known GenesATP5J2-PTCD1, BUD31, CPSF4, PTCD1
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)nsv5864
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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