A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968568



Internal ID18893067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2519699..2520599hg38UCSC Ensembl
Outerchr16:2569700..2570600hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121904
Supporting Variants
SamplesKWS2
Known GenesAMDHD2, ATP6V0C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968568
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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