A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4459



Internal ID15192500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130125164..131507916hg38UCSC Ensembl
Outerchr2:130882737..132265489hg19UCSC Ensembl
Outerchr2:130599207..131981959hg18UCSC Ensembl
Outerchr2:130598967..132099221hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381382753
hg191382753
hg181382753
hg171500255
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7327
Supporting Variants
SamplesNA12878
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P2, GPR148, IMP4, LINC01120, LOC150776, LOC401010, LOC440910, LOC646743, MED15P9, MIR4784, MZT2A, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, PTPN18, RNU6-81P, SMPD4, TISP43, TUBA3D, TUBA3E, WTH3DI
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)nssv4459
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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