A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7171



Internal ID15205468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2512559..2606632hg38UCSC Ensembl
Outerchr1:2443998..2538071hg19UCSC Ensembl
Outerchr1:2433858..2527931hg18UCSC Ensembl
Outerchr1:2476160..2570233hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3894074
hg1994074
hg1894074
hg1794074
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2141, nssv1241, nssv6533, nssv9802, nssv9849, nssv10864, nssv6621, nssv4140, nssv2047, nssv5743, nssv1153, nssv9287, nssv10990, nssv4052, nssv10880, nssv5821
SamplesNA18517, NA18507, NA15510, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesFAM213B, HES5, LOC100133445, LOC115110, MMEL1, PANK4, TNFRSF14
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)nsv7171
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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