A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5386



Internal ID15550190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:87328833..87335203hg38UCSC Ensembl
Outerchr6:88038551..88044921hg19UCSC Ensembl
Outerchr6:88095270..88101640hg18UCSC Ensembl
Outerchr6:88095270..88101640hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg386371
hg196371
hg186371
hg176371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8274
SamplesNA12156
Known GenesGJB7, SMIM8
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)nsv5386
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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