A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2448



Internal ID15540682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9324461..9368979hg38UCSC Ensembl
Outerchr4:9326187..9370705hg19UCSC Ensembl
Outerchr4:8935285..8979803hg18UCSC Ensembl
Outerchr4:9002456..9046974hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3844519
hg1944519
hg1844519
hg1744519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4227
Supporting Variants
SamplesNA18555
Known GenesUSP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)nssv2448
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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