A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5652



Internal ID15543781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75367771..75398497hg38UCSC Ensembl
Outerchr1:75833456..75864182hg19UCSC Ensembl
Outerchr1:75606044..75636770hg18UCSC Ensembl
Outerchr1:75545477..75576203hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3830727
hg1930727
hg1830727
hg1730727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1455
Supporting Variants
SamplesNA19129
Known GenesSLC44A5
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)nssv5652
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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