A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7523



Internal ID15536341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88765384..88810207hg38UCSC Ensembl
Outerchr2:89064901..89109721hg19UCSC Ensembl
Outerchr2:88846016..88890836hg18UCSC Ensembl
Outerchr2:88904163..88948983hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3844824
hg1944821
hg1844821
hg1744821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2824
Supporting Variants
SamplesNA12156
Known GenesANKRD36BP2
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)nssv7523
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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