A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4916



Internal ID15196242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54009320..54055028hg38UCSC Ensembl
Outerchr6:53874118..53919826hg19UCSC Ensembl
Outerchr6:53982077..54027785hg18UCSC Ensembl
Outerchr6:53982077..54027785hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3845709
hg1945709
hg1845709
hg1745709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5307
Supporting Variants
SamplesNA19129
Known GenesMLIP
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)nssv4916
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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