A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2556



Internal ID15540563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:162518362..162550458hg38UCSC Ensembl
Outerchr5:161945368..161977464hg19UCSC Ensembl
Outerchr5:161877946..161910042hg18UCSC Ensembl
Outerchr5:161877946..161910042hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg387932
hg197932
hg187932
hg177932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5102
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2556
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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