A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672



Internal ID15545236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:104811469..104851157hg38UCSC Ensembl
Outerchr7:104451916..104491604hg19UCSC Ensembl
Outerchr7:104239152..104278840hg18UCSC Ensembl
Outerchr7:104045867..104085555hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3839689
hg1939689
hg1839689
hg1739689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5887
Supporting Variants
SamplesNA19240
Known GenesLHFPL3
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)nssv672
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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