A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5380



Internal ID15550184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84589097..84640320hg38UCSC Ensembl
Outerchr6:85298815..85350038hg19UCSC Ensembl
Outerchr6:85355534..85406757hg18UCSC Ensembl
Outerchr6:85355534..85406757hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3851224
hg1951224
hg1851224
hg1751224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9695, nssv4930, nssv3455, nssv566
SamplesNA18507, NA12878, NA19240, NA19129
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)nsv5380
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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