A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7313



Internal ID15205624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:61368040..64822059hg38UCSC Ensembl
Outerchr2:61595175..65049193hg19UCSC Ensembl
Outerchr2:61448679..64902697hg18UCSC Ensembl
Outerchr2:61506826..64960844hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383454020
hg193454019
hg183454019
hg173454019
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4418
SamplesNA12878
Known GenesAFTPH, B3GNT2, CCT4, COMMD1, DBIL5P2, EHBP1, FAM161A, LGALSL, LINC00309, LOC100132215, LOC339807, MDH1, MIR4434, MIR5192, OTX1, PELI1, SERTAD2, SNORA70B, TMEM17, UGP2, USP34, VPS54, WDPCP, XPO1
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)nsv7313
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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