A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5010



Internal ID15197320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102474094..102604027hg38UCSC Ensembl
Outerchr7:102114541..102244474hg19UCSC Ensembl
Outerchr7:101901546..102031542hg18UCSC Ensembl
Outerchr7:101708261..101838257hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38129934
hg19129934
hg18129997
hg17129997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879
Supporting Variants
SamplesNA19129
Known GenesPOLR2J, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B
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)nssv5010
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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