A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5997



Internal ID15204176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147364547..147394941hg38UCSC Ensembl
Outerchr7:147061639..147092033hg19UCSC Ensembl
Outerchr7:146692572..146722966hg18UCSC Ensembl
Outerchr7:146499287..146529681hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3810607
hg1910607
hg1810607
hg1710607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693
SamplesNA19240
Known GenesCNTNAP2, MIR548F4, MIR548I4
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)nsv5997
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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