A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8031



Internal ID15535833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:172884356..172890667hg38UCSC Ensembl
Outerchr4:173805507..173811818hg19UCSC Ensembl
Outerchr4:174042082..174048393hg18UCSC Ensembl
Outerchr4:174180237..174186548hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg386312
hg196312
hg186312
hg176312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4608
Supporting Variants
SamplesNA12156
Known GenesGALNTL6
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)nssv8031
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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