A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605



Internal ID15204234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10296039..10341609hg38UCSC Ensembl
Outerchr12:10448638..10494208hg19UCSC Ensembl
Outerchr12:10339905..10385475hg18UCSC Ensembl
Outerchr12:10339905..10385475hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3845571
hg1945571
hg1845571
hg1745571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6491
SamplesNA12156
Known GenesKLRD1
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)nsv605
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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