A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7298



Internal ID15205607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25244577..25345647hg38UCSC Ensembl
Outerchr1:25571068..25672138hg19UCSC Ensembl
Outerchr1:25443655..25544725hg18UCSC Ensembl
Outerchr1:25316374..25417454hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38101071
hg19101071
hg18101071
hg17101081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6442, nssv9806, nssv10899, nssv3995
SamplesNA18507, NA15510, NA12156, NA12878
Known GenesC1orf63, RHD, TMEM50A
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)nsv7298
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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