A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4424



Internal ID15192465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73373003..73406777hg38UCSC Ensembl
Outerchr2:73600131..73633905hg19UCSC Ensembl
Outerchr2:73453639..73487413hg18UCSC Ensembl
Outerchr2:73511786..73545560hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg385974
hg195974
hg185974
hg175974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2779
Supporting Variants
SamplesNA12878
Known GenesALMS1
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)nssv4424
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