A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2888



Internal ID15547451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152559661..152647968hg38UCSC Ensembl
Outerchr1:152532137..152620444hg19UCSC Ensembl
Outerchr1:150798761..150887068hg18UCSC Ensembl
Outerchr1:149345210..149433517hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3888308
hg1988308
hg1888308
hg1788308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10268, nssv11087, nssv5985, nssv1552, nssv3390, nssv9359, nssv2551, nssv9615
SamplesNA18507, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesLCE3A, LCE3B, LCE3C, LCE3D, LCE3E
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)nsv2888
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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