A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6639



Internal ID15190539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63368704..63387100hg38UCSC Ensembl
Outerchr1:63834375..63852771hg19UCSC Ensembl
Outerchr1:63606963..63625359hg18UCSC Ensembl
Outerchr1:63546396..63564792hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3818397
hg1918397
hg1818397
hg1718397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132
Supporting Variants
SamplesNA12156
Known GenesALG6
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)nssv6639
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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