A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6502



Internal ID15537361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45502512..45520301hg38UCSC Ensembl
Outerchr12:45896295..45914084hg19UCSC Ensembl
Outerchr12:44182562..44200351hg18UCSC Ensembl
Outerchr12:44182562..44200351hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3817790
hg1917790
hg1817790
hg1717790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv691
Supporting Variants
SamplesNA12156
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)nssv6502
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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