A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144169



Internal ID18904483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:30285284..30285584hg38UCSC Ensembl
Outerchr7:30324900..30325200hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994895
SamplesKWS1
Known GenesZNRF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144169
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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