A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7624



Internal ID15536240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:229106256..229151007hg38UCSC Ensembl
Outerchr2:229970972..230015723hg19UCSC Ensembl
Outerchr2:229679216..229723967hg18UCSC Ensembl
Outerchr2:229796477..229841228hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3844752
hg1944752
hg1844752
hg1744752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197
Supporting Variants
SamplesNA12156
Known GenesPID1
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)nssv7624
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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