A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950



Internal ID15204125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:130180223..130214530hg38UCSC Ensembl
Outerchr7:129820063..129854370hg19UCSC Ensembl
Outerchr7:129607299..129641606hg18UCSC Ensembl
Outerchr7:129414014..129448321hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg385714
hg195714
hg185714
hg175714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2776
SamplesNA18555
Known GenesSSMEM1, TMEM209
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)nsv5950
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