A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2066



Internal ID15541349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35114160..35117865hg38UCSC Ensembl
Outerchr1:35579761..35583466hg19UCSC Ensembl
Outerchr1:35352348..35356053hg18UCSC Ensembl
Outerchr1:35248854..35252559hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387116
hg197116
hg187116
hg177116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv422
Supporting Variants
SamplesNA18555
Known GenesZMYM1
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)nssv2066
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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