A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7234



Internal ID15205537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:91700702..98639443hg38UCSC Ensembl
Outerchr12:92094479..99033221hg19UCSC Ensembl
Outerchr12:90618610..97557352hg18UCSC Ensembl
Outerchr12:90596947..97535689hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg386938742
hg196938743
hg186938743
hg176938743
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10909
SamplesNA15510
Known GenesAMDHD1, BTG1, C12orf74, C12orf79, CCDC38, CCDC41, CCDC41-AS1, CDK17, CLLU1, CLLU1OS, CRADD, EEA1, ELK3, FGD6, HAL, IKBIP, KRT19P2, LOC643339, LOC643711, LOC643770, LTA4H, METAP2, MIR1251, MIR135A2, MIR331, MIR3685, MIR4303, MIR492, MIR5700, MIR7844, MRPL42, NDUFA12, NEDD1, NR2C1, NTN4, NUDT4, NUDT4P1, NUDT4P2, PGAM1P5, PLEKHG7, PLXNC1, RMST, SLC25A3, SLC9A7P1, SNORA53, SNRPF, SOCS2, SOCS2-AS1, TMCC3, TMPO, TMPO-AS1, UBE2N, USP44, VEZT
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)nsv7234
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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