A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2731



Internal ID15195157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:116631052..116665522hg38UCSC Ensembl
Outerchr6:116952215..116986685hg19UCSC Ensembl
Outerchr6:117058908..117093378hg18UCSC Ensembl
Outerchr6:117058908..117093378hg17UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg385558
hg195558
hg185558
hg175558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448
Supporting Variants
SamplesNA18555
Known GenesRSPH4A, ZUFSP
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)nssv2731
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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