A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4



Internal ID15383796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:91565861..91606690hg38UCSC Ensembl
Outerchr7:91195176..91236005hg19UCSC Ensembl
Outerchr7:91033112..91073941hg18UCSC Ensembl
Outerchr7:90839827..90880656hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3840830
hg1940830
hg1840830
hg1740830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4
SamplesNA15510
Known Genes
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv4
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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