A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4265



Internal ID15538992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41260409..41276576hg38UCSC Ensembl
Outerchr17:39416661..39432828hg19UCSC Ensembl
Outerchr17:36670187..36686354hg18UCSC Ensembl
Outerchr17:36670187..36686354hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3816168
hg1916168
hg1816168
hg1716168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2050
Supporting Variants
SamplesNA12878
Known GenesKRTAP9-6, KRTAP9-7
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)nssv4265
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