A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7594



Internal ID15189584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:195697571..195742409hg38UCSC Ensembl
Outerchr2:196562295..196607133hg19UCSC Ensembl
Outerchr2:196270540..196315378hg18UCSC Ensembl
Outerchr2:196387801..196432639hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3844839
hg1944839
hg1844839
hg1744839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3094
Supporting Variants
SamplesNA12156
Known GenesDNAH7, SLC39A10
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)nssv7594
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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