A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2556



Internal ID15200433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55745802..55799840hg38UCSC Ensembl
Outerchr19:56257168..56311206hg19UCSC Ensembl
Outerchr19:60948980..61003018hg18UCSC Ensembl
Outerchr19:60948980..61003018hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389648
hg199648
hg189648
hg179648
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10200, nssv9857, nssv2240, nssv10199, nssv6803
SamplesNA18507, NA12156, NA18956, NA18555
Known GenesNLRP11, RFPL4A, RFPL4AL1
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)nsv2556
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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