A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7123



Internal ID15536741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:173723888..173769548hg38UCSC Ensembl
Outerchr1:173693027..173738687hg19UCSC Ensembl
Outerchr1:171959650..172005310hg18UCSC Ensembl
Outerchr1:170424684..170470344hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3845661
hg1945661
hg1845661
hg1745661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3598
Supporting Variants
SamplesNA12156
Known GenesKLHL20
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)nssv7123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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