A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6536



Internal ID15537327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117352810..117382014hg38UCSC Ensembl
Outerchr12:117790615..117819819hg19UCSC Ensembl
Outerchr12:116274998..116304202hg18UCSC Ensembl
Outerchr12:116253335..116282539hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg387394
hg197394
hg187394
hg177394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv901
Supporting Variants
SamplesNA12156
Known GenesNOS1
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)nssv6536
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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