A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4974



Internal ID15203051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:119414564..119459681hg38UCSC Ensembl
Outerchr5:118750259..118795376hg19UCSC Ensembl
Outerchr5:118778158..118823275hg18UCSC Ensembl
Outerchr5:118778158..118823275hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3845118
hg1945118
hg1845118
hg1745118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8142
SamplesNA12156
Known GenesHSD17B4
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)nsv4974
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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