A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7318



Internal ID15205629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88795597..90209331hg38UCSC Ensembl
Outerchr2:89095114..90248197hg19UCSC Ensembl
Outerchr2:88876229..89885502hg18UCSC Ensembl
Outerchr2:88934376..89943649hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381413735
hg191153084
hg181009274
hg171009274
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6855, nssv4433, nssv2272, nssv4432, nssv11015, nssv4431, nssv9349, nssv4435
SamplesNA12156, NA12878, NA15510, NA18555, NA18517
Known GenesANKRD36BP2, MIR4436A
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)nsv7318
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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