A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5672



Internal ID15203819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26671843..26718272hg38UCSC Ensembl
Outerchr7:26711462..26757891hg19UCSC Ensembl
Outerchr7:26677987..26724416hg18UCSC Ensembl
Outerchr7:26484702..26531131hg17UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3846430
hg1946430
hg1846430
hg1746430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10539
SamplesNA18956
Known GenesSKAP2
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)nsv5672
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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