A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7613



Internal ID15536251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:214224055..214268991hg38UCSC Ensembl
Outerchr2:215088779..215133715hg19UCSC Ensembl
Outerchr2:214797024..214841960hg18UCSC Ensembl
Outerchr2:214914285..214959221hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3844937
hg1944937
hg1844937
hg1744937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3155
Supporting Variants
SamplesNA12156
Known GenesSPAG16
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)nssv7613
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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