A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv633



Internal ID15204542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41479827..41524947hg38UCSC Ensembl
Outerchr1:41945498..41990618hg19UCSC Ensembl
Outerchr1:41718085..41763205hg18UCSC Ensembl
Outerchr1:41614591..41659711hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3845121
hg1945121
hg1845121
hg1745121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9065
SamplesNA12156
Known GenesEDN2, HIVEP3
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)nsv633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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