A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3270



Internal ID15537998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88162344..88181416hg38UCSC Ensembl
Outerchr4:89083496..89102568hg19UCSC Ensembl
Outerchr4:89302520..89321592hg18UCSC Ensembl
Outerchr4:89440675..89459747hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg385492
hg195492
hg185492
hg175492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4415
Supporting Variants
SamplesNA12878
Known GenesABCG2
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)nssv3270
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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