A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1963



Internal ID15199840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7244585..7333855hg38UCSC Ensembl
Outerchr17:7147904..7237174hg19UCSC Ensembl
Outerchr17:7088628..7177898hg18UCSC Ensembl
Outerchr17:7088628..7177898hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3889271
hg1989271
hg1889271
hg1789271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4247
SamplesNA12878
Known GenesCLDN7, CTDNEP1, EIF5A, ELP5, GPS2, NEURL4, SLC2A4, YBX2
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)nsv1963
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer