A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7375



Internal ID15205692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179595768..179696145hg38UCSC Ensembl
Outerchr5:179022769..179123146hg19UCSC Ensembl
Outerchr5:178955375..179055752hg18UCSC Ensembl
Outerchr5:178955375..179055752hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38100378
hg19100378
hg18100378
hg17100378
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9421, nssv9680, nssv9422, nssv11118, nssv4882, nssv520, nssv10484, nssv3409, nssv9679, nssv6044, nssv6045, nssv4883, nssv2565, nssv10483, nssv11117, nssv2564, nssv521
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesC5orf60, CBY3, HNRNPH1, RUFY1
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)nsv7375
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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