A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4376



Internal ID15549079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210454276..210498982hg38UCSC Ensembl
Outerchr1:210627620..210672326hg19UCSC Ensembl
Outerchr1:208694243..208738949hg18UCSC Ensembl
Outerchr1:207016015..207060721hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3844707
hg1944707
hg1844707
hg1744707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8049
SamplesNA12156
Known GenesHHAT
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)nsv4376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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