A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4232



Internal ID15202235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207516277..207587787hg38UCSC Ensembl
Outerchr1:207689622..207761132hg19UCSC Ensembl
Outerchr1:205756245..205827755hg18UCSC Ensembl
Outerchr1:204078017..204149527hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3871511
hg1971511
hg1871511
hg1771511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4934, nssv11178, nssv9390, nssv9670, nssv2681, nssv3695, nssv6098, nssv453
SamplesNA18507, NA12156, NA12878, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesCR1
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)nsv4232
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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