A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4994



Internal ID15197346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76480724..76609079hg38UCSC Ensembl
Outerchr7:76110041..76238396hg19UCSC Ensembl
Outerchr7:75947977..76076332hg18UCSC Ensembl
Outerchr7:75754692..75883047hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38128356
hg19128356
hg18128356
hg17128356
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7403
Supporting Variants
SamplesNA19129
Known GenesDTX2, LOC100133091, UPK3B
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)nssv4994
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer