A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv176



Internal ID15383362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39866539..39890458hg38UCSC Ensembl
Outerchr19:40357179..40381098hg19UCSC Ensembl
Outerchr19:45049019..45072938hg18UCSC Ensembl
Outerchr19:45049019..45072938hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3814477
hg1914477
hg1814477
hg1714477
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv176
Supporting Variants
SamplesNA15510
Known GenesFCGBP
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv176
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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