A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941



Internal ID15550801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:127071077..127105131hg38UCSC Ensembl
Outerchr7:126711131..126745185hg19UCSC Ensembl
Outerchr7:126498367..126532421hg18UCSC Ensembl
Outerchr7:126305082..126339136hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg385974
hg195974
hg185974
hg175974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2775
SamplesNA18555
Known GenesGRM8
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)nsv5941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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