A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2736



Internal ID8514281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:55883434..55917012hg38UCSC Ensembl
Outerchr2:56110569..56144147hg19UCSC Ensembl
Outerchr2:55964073..55997651hg18UCSC Ensembl
Outerchr2:56022220..56055798hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg387397
hg197397
hg187397
hg177397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1496
SamplesNA19240
Known GenesEFEMP1
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)nsv2736
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