A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2468



Internal ID15200345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34239307..34269239hg38UCSC Ensembl
Outerchr19:34730212..34760144hg19UCSC Ensembl
Outerchr19:39422052..39451984hg18UCSC Ensembl
Outerchr19:39422052..39451984hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg387947
hg197947
hg187947
hg177947
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5739, nssv9854, nssv4354, nssv10992, nssv2995, nssv1448, nssv6782, nssv10185
SamplesNA18507, NA15510, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesKIAA0355
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)nsv2468
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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