A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872



Internal ID15204039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100999861..101030935hg38UCSC Ensembl
Outerchr7:100643142..100674216hg19UCSC Ensembl
Outerchr7:100429862..100460936hg18UCSC Ensembl
Outerchr7:100236577..100267651hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3819308
hg1919308
hg1819308
hg1719308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665, nssv9443, nssv2678, nssv10570, nssv6157, nssv5008, nssv10569, nssv11156, nssv3559, nssv9721
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesMUC12, MUC17
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)nsv5872
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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